MyDogDNA is a simple and easy-to-use testing service that helps you understand your dog’s health and increase its well-being.

Afghan Hound

Canine geneticists and veterinarians are unanimous that inbreeding, and consequently a too uniform gene pool, is a tangible risk for the health of a dog breed. Whilst dog breeding aims at reproducing in a breed genes that are associated with the breed standard and desired traits, it often accidentally enriches also genes associated with undesired inherited diseases and disorders. Therefore, for each and every breed, measuring and monitoring of genetic diversity needs to go hand in hand with the genetic disease testing.

On this page, you will find the introduction to MyDogDNA test content divided in following sections: DNA Identification Profile, Disorders, Traits, and Genetic Diversity and Relationships. Click on the headlines and read more about what's included in each section. See the exact genetic markers used for DNA profiling according to different standards, full lists of the tested disorders and traits, and also the visualized information on genetic diversity and relationships, measured from over 7000 markers covering each of the 39 chromosome pairs in the dog genome.

MyDogDNA provides the most comprehensive genomic analysis of your dog in the market. See below what’s included in the MyDogDNA PASS as well as samples of the reports offered for your breed in the MyDogDNA database

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DNA Identification Profile

Each dog has a unique genetic "DNA fingerprint", which consists of the genetic material inherited from the parents. The DNA profile can be used, for example, for dog identification. Dog's DNA variation can also be compared to its assumed parents' DNA to determine its parentage.
With MyDogDNA, you will get a DNA identification profile for your dog, including internationally approved markers. You can choose with which standard you want to have for your dog identified: ISAG (International Society for Animal Genetics) or AKC (American Kennel Club). The markers for each standard have been listed below.

Name
Description
ISAG

ISAG markers

AHT121
AHTK211
AHTh171
AHTh260
AHTk253
CXX279
FH2054
INRA21
REN162C04
REN54P11
AHT137
Amelogenin
FH2848
INU005
INU030
INU055
REN169D01
REN169O18
REN247M23

AKC

AKC markers

FHC2010
FHC2054
FHC2079
GENDER
PEZ01
PEZ03
PEZ05
PEZ06
PEZ08
PEZ12
PEZ16
PEZ17
PEZ20
PEZ21

Disorders

Known disorders in the breed

The disorders listed below have been scientifically established in the selected breed. Genetic research continuously identifies new mutations underlying inherited disorders. Most of the currently known mutations can still be considered breed-specific, while others are more ancient and widespread across breeds. Please note that mutations in the "Pharmacogenetics" category have not necessarily yet been encountered in the selected breed. They are shown here because they may be of immediate relevance for the dog's medical treatment if present.

Pharmacogenetics

Name
Description
Malignant Hyperthermia (MH)
Malignant hyperthermia (MH) is a dominantly inherited harmful condition that is induced by commonly used anesthetics or succinylcholine, a muscle relaxant. This oversensitivity has been found in multiple breeds and it is thought that dogs of all breeds may potentially be affected.

Additional details

Malignant hyperthermia (MH) is a dominantly inherited harmful condition that is induced by commonly used anesthetics or succinylcholine, a muscle relaxant. When under anesthesia the affected animal develops hypercapnia, tachycardia, hyperthermia and muscle rigidity. This oversensitivity has been found in multiple breeds and it is thought that dogs of all breeds may potentially be affected.

It is recommended to test for this condition, because the mutation is believed to be present in all breeds and because it may influence treatments chosen by veterinarians.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/), Faculty of Veterinary Science, University of Sydney; Feb 2013; OMIA 000621-9615

Scientific articles
Brunson DB, Hogan KJ. Malignant hyperthermia: a syndrome not a disease. Vet Clin North Am Small Anim Pract 34:1419-33, 2004. Pubmed: 15474681.

Parker HG, Kukekova AV, Akey DT, Goldstein O, Kirkness EF, Baysac KC, Mosher DS, Aguirre GD, Acland GM, Ostrander EA. Breed relationships facilitate fine-mapping studies: A 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds. Genome Res 23:62-75, 2007. Pubmed: 17916641.

Roberts MC, Mickelson JR, Patterson EE, Nelson TE, Armstrong PJ, Brunson DB, Hogan K. Autosomal dominant canine malignant hyperthermia is caused by a mutation in the gene encoding the skeletal muscle calcium release channel (RYR1). Anesthesiology 95:716-725, 2001. Pubmed: 11575546.

Additional tested disorders found in other breeds

These disorders have as of yet been unencountered in this breed. However, despite actively ongoing research, no one has ever tested for all of known mutations in all breeds. As demonstrated already during the MyDogDNA pilot study, some of mutations originally published as breed-specific appear to be widespread and common in other breeds as well. These discoveries are important because unknown mutations can potentially be severe existing or emerging health risks. Therefore, with MyDogDNA test panel, we screen all these listed disorders from all dogs of all breeds. Choose a disorder category and read more about the tested canine disorders that have been encountered in dog breeds.

Kidney disorders

Name
Description
Hyperuricosuria and Hyperuricemia (HUU) or Urolithiasis
Hyperuricosuria is a potentially painful kidney disorder, in which urine stones form in the urinary tract (urolithiasis). Failure of urea uptake leads to increased uric acid in the blood (hyperuricemia). The disease is inherited in an autosomal recessive manner. Almost all Dalmatians are genetically affected by this condition.

References

Scientific articles
Bannasch D, Safra N, Young A, Karmi N, Schaible G V, Ling G V. Mutations in the SLC2A9 Gene Cause Hyperuricosuria and Hyperuricemia in the Dog. PLoS Genet 4(11), 2008: e1000246. doi:10.1371/journal.pgen.1000246
Polycystic Kidney Disease (PKD)
BTPKD is a kidney disease affecting English Bull Terriers. The affected dogs develop bilateral cysts in their kidneys that result in renal failure. BTPKD is caused by a mutation BKD1 gene and it is inherited in an autosomal dominant manner.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA000807-9615

Scientific articles
Gharahkhani P, O'Leary CA, Kyaw-Tanner M, Sturm RA, Duffy DL. A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers. PLoS ONE6:e22455, 2011 Pubmed: 21818326
Primary hyperoxaluria (PH); mutation originally found in Coton de Tulear
Primary Hyperoxaluria (PH) is a metabolic disorder reported in Coton de Tulear (and Tibetan Spaniel, although the genetic cause in this breed has not been confirmed). PH causes accumulation of calcium oxalate, leading to kidney stones and eventually fatal kidney failure at young age. The disease is inherited in an autosomal recessive manner.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, March 2013, OMIA001672-9615

Scientific articles
Vidgren G, Vainio-Siukola K, Honkasalo S, Dillard K, Anttila M, Vauhkonen H Primary hyperoxaluria in Coton de Tulear. Anim Genet. 43(3):356-361, 2012 Pubmed: 22486513
X-linked Hereditary Nephropathy (XLHN)
X- linked hereditary nephropathy (XLHN) is a kidney disorder, which mainly affects Samoyeds. The symptoms include proteinuria, diarrhea and reduced growth. The disease is X- linked and is therefore inherited from healthy female carriers to affected male offspring.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/) Faculty of Veterinary Science, University of Sydney; Feb 2013; OMIA 001112-9615

Scientific articles
Bell RJ, Lees GE, Murphy KE. X chromosome inactivation patterns in normal and X-linked hereditary nephropathy carrier dogs. Cytogenet Genome Res 122:37-40, 2008. Pubmed: 18931484


Zheng KQ, Thorner PS, Marrano P, Baumal R, Mcinnes RR Canine X Chromosome-Linked Hereditary Nephritis - A Genetic Model for Human X-Linked Hereditary Nephritis Resulting from a Single Base Mutation in the Gene Encoding the alpha 5 Chain of Collagen Type IV. Proceedings of the National Academy of Sciences of the United States of America 91:3989-3993, 1994. Pubmed: 8171024

Neuromuscular disorders

Name
Description
Alpha Fucosidosis
Alpha Fucosidosis is a progressive neuromuscular disorder characterized by mixed motor and mental function deficits. It is encountered at least in English Springer Spaniels, in which the disease shows autosomal recessive inheritance. The underlying genetic defect is a deletion in the FUCA1 gene.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA 000396-9615

Scientific articles
Kondagari GS, Ramanathan P, Taylor R. Canine fucosidosis: a neuroprogressive disorder. Neurodegener Dis 8:240-51, 2011. Pubmed: 21282938.


Skelly BJ, Sargan DR, Herrtage ME, Winchester BG. The molecular defect underlying canine fucosidosis. Journal of Medical Genetics 33:284-288, 1996. Pubmed: 8730282.
Episodic falling (EF)
Episodic Falling (EF) is a condition causing temporary inability to relax muscles in Cavalier King Charles Spaniels. Symptoms include increased muscle tone and collapses. The disease is inherited in an autosomal recessive manner.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, March 2013, OMIA001592-9615

Scientific articles
Forman OP, Penderis J, Hartley C, Hayward LJ, Ricketts SL, Mellersh CS Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed. PLoS Genet. 8(1):e1002462, 2012 Pubmed: 22253609
GM1 Gangliosidosis; mutation originally found in Alaskan Husky
GM1 gangliosidosis is a progressive lysosomal storage disease causing neuromuscular dystrophy. The disease affects several breeds, and it is caused by various mutations in the GLB1 gene. GM1 gangliosidosis shows autosomal recessive inheritance.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA 000402-9615

Scientific articles
Kreutzer R, Leeb T, Muller G, Moritz A, Baumgartner W. A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies. Genetics 170:1857-61, 2005. Pubmed: 15944348.

Wang ZH, Zeng B, Shibuya H, Johnson GS, Alroy J, Pastores GM, Raghavan S, Kolodny EH. Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis. J Inherit Metab Dis 23:593-606, 2000. Pubmed: 11032334.

Yamato O, Endoh D, Kobayashi A, Masuoka Y, Yonemura M, Hatakeyama A, Satoh H, Tajima M, Yamasaki M, Maede Y. A novel mutation in the gene for canine acid beta-galactosidase that causes GM1-gangliosidosis in Shiba dogs. J Inherit Metab Dis 25:525-526, 2002. Pubmed: 12555949.
GM1 Gangliosidosis; mutation originally found in Portuguese Water Dog
GM1 Gangliosidosis is a progressive lysosomal storage disease causing neuromuscular dystrophy. The disease affects several breeds, and it is caused by various mutations in the GLB1 gene. GM1 Gangliosidosis shows autosomal recessive inheritance.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA 000402-9615

Scientific articles
Kreutzer R, Leeb T, Muller G, Moritz A, Baumgartner W. A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies. Genetics 170:1857-61, 2005. Pubmed: 15944348.

Wang ZH, Zeng B, Shibuya H, Johnson GS, Alroy J, Pastores GM, Raghavan S, Kolodny EH. Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis. J Inherit Metab Dis 23:593-606, 2000. Pubmed: 11032334.

Yamato O, Endoh D, Kobayashi A, Masuoka Y, Yonemura M, Hatakeyama A, Satoh H, Tajima M, Yamasaki M, Maede Y. A novel mutation in the gene for canine acid beta-galactosidase that causes GM1-gangliosidosis in Shiba dogs. J Inherit Metab Dis 25:525-526, 2002. Pubmed: 12555949.
GM1 Gangliosidosis; mutation originally found in Shiba Dog
GM1 gangliosidosis is a progressive lysosomal storage disease causing neuromuscular dystrophy. The disease affects several breeds, and it is caused by various mutations in the GLB1 gene. GM1 gangliosidosis shows autosomal recessive inheritance.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA 000402-9615

Scientific articles
Kreutzer R, Leeb T, Muller G, Moritz A, Baumgartner W. A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies. Genetics 170:1857-61, 2005. Pubmed: 15944348.

Wang ZH, Zeng B, Shibuya H, Johnson GS, Alroy J, Pastores GM, Raghavan S, Kolodny EH. Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis. J Inherit Metab Dis 23:593-606, 2000. Pubmed: 11032334.

Yamato O, Endoh D, Kobayashi A, Masuoka Y, Yonemura M, Hatakeyama A, Satoh H, Tajima M, Yamasaki M, Maede Y. A novel mutation in the gene for canine acid beta-galactosidase that causes GM1-gangliosidosis in Shiba dogs. J Inherit Metab Dis 25:525-526, 2002. Pubmed: 12555949.
GM2 Gangliosidosis; mutation originally found in Toy Poodle
GM2 Gangliosidosis, also known as Sandhoff disease, is a fatal neuromuscular disorder described in Golden Retrievers and Toy Poodles. The disease causes severe progressive neurological dysfunctions, including ataxia, stupor, and blindness. GM2 Gangliosidosis is typically fatal within months after symptom onset. The disorder follows autosomal recessive inheritance.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, March 2013, OMIA001462-9615

Scientific articles
Matsuki N, Yamato O, Kusuda M, Maede Y, Tsujimoto H, Ono K. Magnetic resonance imaging of GM2-gangliosidosis in a golden retriever. Can Vet J. 46(3):275-278, 2005 Pubmed: 15884653
Globoid Cell Leukodystrophy (GLD) or Krabbe's disease, Terrier mutation
Globoid Cell Leukodystrophy is a neurodegenerative disorder that progresses from general muscle weakness to paralysis. The genetic cause of GLD is well known in West Highland White Terriers, Cairn Terriers, and in Irish Setters. In these breeds, the disease shows autosomal recessive inheritance due to mutations in the GALC gene.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA 000578-9615

Scientific articles
McGraw RA, Carmichael KP. Molecular basis of globoid cell leukodystrophy in Irish setters. Vet J 171:370-2, 2006. Pubmed: 16490723.

Wenger DA, Victoria T, Rafi MA, Luzi P, Vanier MT, Vite C, Patterson DF, Haskins MH. Globoid cell leukodystrophy in cairn and West Highland white terriers. Journal of Heredity 90:138-142, 1999. Pubmed: 9987921.

Victoria T, Rafi MA, Wenger DA. Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn Terriers. Genomics 33:457-462, 1996. Pubmed: 8661004.
Hyperekplexia or Startle Disease
Hyperekplexia or startle disease is a disease documented in Irish Wolfhounds. The disease manifests already in very young puppies that respond to handling with muscle stiffness and tremor. Difficulties to stand, and deficiencies in blood circulation are other symptoms of this disorder that typically progresses to such severity euthanasia is required. The mode of inheritance is autosomal recessive.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, March 2013: OMIA 001594-9615


Scientific articles
Gill JL, Capper D, Vanbellinghen J-F, Chung S-K, Higgins RJ, Rees MI,? Shelton GD, Harvey RJ.Startle disease in Irish Wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene. Neurobiol Dis 43:184-9, 2011. Pubmed: 21420493

Eye disorders

Name
Description
Achromatopsia or Cone Degeneration (CD); mutation originally found in German Shorthaired Pointer
Cone Degeneration, also known as Achromatopsia or Hemeralopia, is an eye disorder affecting multiple breeds. The affected dogs suffer from day-blindness and photophobia. The disease is inherited as an autosomal recessive trait.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, March 2013, OMIA001365-9615 and OMIA001676-9615

Scinetific articles
Sidjanin DJ, Lowe JK, McElwee JL, Milne BS, Phippen TM, Sargan DR, Aguirre GD, Acland GM, Ostrander EA. Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Hum Mol Genet. 1;11(16):1823-33, 2002 Pubmed: 12140185
Autosomal Dominant Progressive Retinal Atrophy (ADPRA)
Autosomal Dominant Progressive Retinal Atrophy (ADPRA) is characterized by degeneration of retinal photoreceptors, causing vision loss. This autosomally dominantly inherited form of PRA was identified in Bullmastiffs and English Mastiffs and it is caused by a nonsynonymous mutation in the RHO gene.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, Jan 2013; OMIA 001346-9615

Scientific articles
Kijas JW, Miller BJ, Pearce-Kelling SE, Aguirre GD, Acland GM. Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff dog breeds. J Hered 94:27-30, 2003. Pubmed: 12692159.

Kijas JW, Cideciyan AV, Aleman TS, Pianta MJ, Pearce-Kelling SE, Miller BJ, Jacobson SG, Aguirre GD, Acland GM. Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. Proc Nat Acad Sci U S A 99:6328-6333, 2002. Pubmed: 11972042.
Canine Multifocal Retinopathy 1 (cmr1), Mastiff-related breeds mutation
Canine Multifocal Retinopathy (cmr) is an eye disease found in multiple breeds. It is characterized by multiple areas of retinal decay, eventually causing blindness. Cmr shows autosomal recessive inheritance and it is caused by mutations in the BEST1 gene.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA 001444-9615

Scientific articles
Guziewicz KE, Slavik J, Lindauer SJ, Aguirre GD, Zangerl B. Molecular Consequences of BEST1 Gene Mutations in Canine Multifocal Retinopathy Predict Functional Implications for Human Bestrophinopathies. Invest Ophthalmol Vis Sci 52:4497-505, 2011. Pubmed: 21498618

Guziewicz KE, Zangerl B, Lindauer SJ, Mullins RF, Sandmeyer LS, Grahn BH, Stone EM, Acland GM, Aguirre GD. Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Invest Ophthalmol Vis Sci 48:1959-67, 2007. Pubmed: 17460247
Canine Multifocal Retinopathy 2 (cmr2); mutation originally found in Coton de Tulear
Canine multifocal retinopathy (cmr) is an eye disease found in multiple breeds. It is characterized by multiple areas of retinal decay, eventually causing blindness. Cmr shows autosomal recessive inheritance and it is caused by mutations in the BEST1 gene. This tested mutation was originally discovered in the Coton de Tulear breed.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, Feb 2013; OMIA001553-9615

Scientific articles
Guziewicz KE, Slavik J, Lindauer SJ, Aguirre GD, Zangerl B. Molecular Consequences of BEST1 Gene Mutations in Canine Multifocal Retinopathy Predict Functional Implications for Human Bestrophinopathies. Invest Ophthalmol Vis Sci 52:4497-505, 2011. Pubmed: 21498618

Guziewicz KE, Zangerl B, Lindauer SJ, Mullins RF, Sandmeyer LS, Grahn BH, Stone EM, Acland GM, Aguirre GD. Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Invest Ophthalmol Vis Sci 48:1959-67, 2007. Pubmed: 17460247
Canine Multifocal Retinopathy 3 (cmr3); mutation originally found in Lapponian Herder
Canine multifocal retinopathy (cmr) is an eye disease found in multiple breeds. It is characterized by multiple areas of retinal decay, eventually causing blindness. Cmr shows autosomal recessive inheritance and it is caused by mutations in the BEST1 gene. Cmr3 in Lapponian Herders is caused by the joint effect of two different, but co-inherited, mutations in the gene.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA001554-9615

Scientific articles
Guziewicz KE, Slavik J, Lindauer SJ, Aguirre GD, Zangerl B. Molecular Consequences of BEST1 Gene Mutations in Canine Multifocal Retinopathy Predict Functional Implications for Human Bestrophinopathies. Invest Ophthalmol Vis Sci 52:4497-505, 2011. Pubmed: 21498618

Guziewicz KE, Zangerl B, Lindauer SJ, Mullins RF, Sandmeyer LS, Grahn BH, Stone EM, Acland GM, Aguirre GD. Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Invest Ophthalmol Vis Sci 48:1959-67, 2007. Pubmed: 17460247

Zangerl B, Wickstr�m K, Slavik J, Lindauer SJ, Ahonen S, Schelling C, Lohi H, Cuziewicz KE, Aguirre GD. Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). Mol Vis 16:2791-2804, 2010. Pubmed: 21197113
Cone-rod Dystrophy (cord1-PRA / crd4)
Cone-rod dystrophy 1 (cord1) is a form of progressive retinal atrophy (PRA) characterized by degeneration of cone photoreceptors, causing vision loss. An insertion mutation in the RPGRIP1 gene was first identified as a major risk factor for the disease in Dachshunds, and it has now been identified in multiple breeds.

Additional information

Cone-rod dystrophy 1 (cord1) is a form of progressive retinal atrophy (PRA) characterized by degeneration of cone photoreceptors, causing vision loss. An insertion mutation in the RPGRIP1 gene was first identified as a major risk factor for the disease in Dachshunds, and it has now been identified in multiple breeds. Cord1 most closely follows autosomal recessive inheritance. It should however be noted that the disorder shows incomplete penetrance and considerable variance in age of onset. Therefore, not all dogs tested "affected" for this genetic risk factor will necessarily manifest the disorder.
Cone-rod dystrophy (crd SWD); mutation originally found in Standard Wire-haired Dachshund
This type of Cone-Rod Dystrophy (crd SWD) is a form of progressive retinal atrophy affecting Standard Wire-haired Dachshunds.

Additional details

Gradual loss of photoreceptors eventually leads to blindness in affected dogs. Crd SWD is caused by a deletion in the NPHP4 gene and it is inherited as an autosomal recessive trait.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, April 2013, OMIA001455-9615

Scientific articles
Ropstad EO, Bjerkås E, Narfström K. Clinical findings in early onset cone-rod dystrophy in the Standard Wire-haired Dachshund. Vet Ophthalmol 10(2):69-75, 2007. Pubmed: 17324160

Wiik AC, Wade C, Biagi T, Ropstad EO, Bjerkås E, Lindblad-Toh K, Lingaas F. A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund. Genome Res 18(9):1415-1421, 2008. Pubmed: 18687878
Generalized Progressive Retinal Atrophy; mutation originally found in Schapendoes
Progressive retinal atrophies (PRAs) are ocular diseases characterized by degeneration of retinal photoreceptors, causing vision loss and eventually blindness. This mutation causing a form of generalized PRA (gPRA) that was first described in Schapendoes Dogs. This mutation resides in the CCDC66 gene and it is inherited in an autosomal recessive manner.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, March 2013 OMIA001521-9615

Scientific articles
Dekomien G, Vollrath C, Petrasch-Parwez E, Boev� MH, Akkad DA, Gerding WM, Epplen JT Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene. Neurogenetics. 11(2):163-174, 2010 Pubmed: 19777273

Lippmann T, Jonkisz A, Dobosz T, Petrasch-Parwez E, Epplen JT, Dekomien G Haplotype-defined linkage region for gPRA in Schapendoes dogs. Mol Vis. 7;13:174-180, 2007 Pubmed: 17327822
Golden Retriever Progressive Retinal Atrophy 1 (GR_PRA 1)
GR_PRA1 is a form of Progressive Retinal Atrophy (PRA) specific to Golden Retrievers. PRAs are characterized by degeneration of photoreceptors causing vision loss. The disease is caused by an insertion mutation in the SLC4A3 gene and it is inherited in an autosomal recessive manner.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA001572-9615

Scientific articles
Downs LM, Wallin-Håkansson B, Boursnell M, Marklund S, Hedhammar Å, Truvé K, Hübinette L, Lindblad-Toh K, Bergström T, Mellersh CS. A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations. PLoS One 6:e21452, 2011. Pubmed: 21738669.
Primary Hereditary Cataract (PHC); mutation originally found in Australian Shepherd
Primary Hereditary Cataract (PHC) is an eye disorder affecting multiple breeds, and it is characterized by cataracts in different parts of the eyes.

Additional details

Affected dogs show opacities of the lens in variable amounts. PHC is inherited in an autosomal dominant manner, but exhibits incomplete penetrance meaning that not all genetically affected animals will manifest the disorder.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA001758-9615

Scientific articles
Mellersh CS, Mclaughlin B, Ahonen S, Pettitt L, Lohi H, Barnett KC Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd. Vet Ophthalmol 12:372-378, 2009. Pubmed: 19883468
Primary Lens Luxation (PLL)
PLL (Primary Lens Luxation) is an eye disorder causing painful displacement of the lens and potentially blindness in multiple breeds.

Additional details

PLL most closely follows an autosomal recessive mode of inheritance, but in some cases carrier dogs may show some degree of symptoms.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA000588-9615

Scientific articles
Farias FH, Johnson GS, Taylor JF, Giuliano E, Katz ML, Sanders DN, Schnabel RD, McKay SD, Khan S, Gharahkhani P, O'Leary CA, Pettitt L, Forman OP, Boursnell M, McLaughlin B, Ahonen S, Lohi H, Hernandez-Merino E, Gould DJ, Sargan DR, Mellersh C. An ADAMTS17 splice donor site mutation in dogs with primary lens luxation. Invest Ophthalmol Vis Sci. 51(9):4716-21 2010 Pubmed: 20375329
Primary Open Angle Glaucoma; mutation originally found in Beagle
Primary Open Angle Glaucoma (POAG) is an eye disorder causing increased intraocular pressure. POAG eventually causes complete loss of vision if not treated. The genetic variant assessed here was first identified in a colony of Beagles. The disease is inherited in an autosomal recessive manner.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, March 2013, OMIA000411-9615

Scientific articles
Kuchtey J, Olson LM, Rinkoski T, Mackay EO, Iverson TM, Gelatt KN, Haines JL, Kuchtey RW Mapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucoma. PLoS Genet. 7(2):e1001306, 2011 Pubmed: 21379321
Rod-Cone Dysplasia 1 (rcd1); mutation originally found in Irish Setter
Rod-Cone Dysplasia 1 (rcd1) in Irish Setters and 1a (rcd1a) in Sloughi Dogs are eye disorders causing photoreceptor degeneration. These disorders first cause loss of vision, which subsequently develops into blindness. Both disorders are inherited in an autosomal recessive manner.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA000882-9615 and OMIA001669-9615

Scientific articles
Dekomien G, Runte M, Gödde R, Epplen JT. Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenet Cell Genet. 90(3-4):261-7 2000

Suber ML, Pittler SJ, Qin N, Wright GC, Holcombe V, Lee RH, Craft CM, Lolley RN, Baehr W, Hurwitz RL. Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. Proc Natl Acad Sci U S A. 1;90(9):3968-72 1993 Pubmed: 8387203
Rod-Cone Dysplasia 1a (rcd1a); mutation originally found in Sloughi
Rod-Cone Dysplasia 1 (rcd1) in Irish Setters and 1a (rcd1a) in Sloughi Dogs are similar eye disorders causing photoreceptor degeneration. Rcd1 and rcd1a first cause loss of vision which then develops into complete blindness. Both disorders are inherited in an autosomal recessive manner.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA000882-9615 and OMIA001669-9615

Scientific articles
Dekomien G, Runte M, Gödde R, Epplen JT. Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenet Cell Genet. 90(3-4):261-7 2000

Suber ML, Pittler SJ, Qin N, Wright GC, Holcombe V, Lee RH, Craft CM, Lolley RN, Baehr W, Hurwitz RL. Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. Proc Natl Acad Sci U S A. 1;90(9):3968-72 1993 Pubmed: 8387203
Rod-Cone Dysplasia 3 (rcd3)
Rod-Cone Dysplasia 3 (rcd3) is an eye disorder causing blindness in Cardigan Welsh Corgi. Symptoms are night blindness and loss of day vision that eventually lead to complete blindness. Rcd3 is inherited in an autosomal recessive manner.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA001314-9615

Scientific articles
Petersen-Jones SM, Entz DD, Sargan DR cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog. Invest Ophthalmol Vis Sci. 40(8):1637-1644, 1999 Pubmed: 10393029

Tuntivanich N, Pittler SJ, Fischer AJ, Omar G, Kiupel M, Weber A, Yao S, Steibel JP, Khan NW, Petersen-Jones SM Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation. Invest Ophthalmol Vis Sci. 50(2):801-813, 2009 Pubmed: 18775863
X-Linked Progressive Retinal Atrophy 1 (XLPRA1)
X-Linked Progressive Retinal Atrophy 1 (XLPRA1) is an eye disorder causing retinal degeneration in Siberian Huskies and Samoyeds. Symptoms are night blindness and loss of visual field progressing to blindness. XLPRA1 follows X-linked inheritance and is caused by a deletion in the RPGR gene.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA831-9615

Scientific articles
Zhang Q, Acland GM, Wu WX, Johnson JL, Pearce-Kelling S, Tulloch B, Vervoort R, Wright FA, Aguirre GD Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration Hum. Mol. Gen. 11( 9):993-1003, 2002 Pubmed: 11978759

Zangerl B, Johnson JL, Acland GM, Aguirre GD Independent Origin and Restricted Distribution of RPGR Deletions causing XLPRA J. Hered 98(5):526-530, 2007 Pubmed: 17646274

Blood disorders

Name
Description
Bleeding disorder due to P2RY12 defect
This bleeding disorder due to a defect in the P2RY12 receptor gene was reported in Greater Swiss Mountain Dogs. Affected dogs suffer from excessive bleeding after a trauma or a surgery. Mode of inheritance is autosomal recessive.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, March 2013, OMIA001564-9615

Scientific articles
Boudreaux MK, Martin M P2Y12 receptor gene mutation associated with postoperative hemorrhage in a Greater Swiss Mountain dog. Vet Clin Pathol. 40(2):202-206, 2011 Pubmed: 21554368
Canine Cyclic Neutropenia (Gray Collie Syndrome)
Cyclic Neutropenia is an immunodeficiency condition where cyclic oscillations in white blood cell count leads to periodic susceptibility to infections. The disease is well described in breeds of Collie relation, in which it produces a characteristic gray coat color. The disease is caused by an insertion-mutation in the AP3B1 gene and is inherited in an autosomal recessive manner.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, Jan 2013 ; OMIA 000248-9615

Scientific articles
Benson KF, Li FQ, Person RE, Albani D, Duan Z, Wechsler J, Meade-White K, Williams K, Acland GM, Niemeyer G, Lothrop CD, Horwitz M. Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase. Nat Genet 35:90-6, 2003. Pubmed: 12897784.


Benson KF, Person RE, Li FQ, Williams K, Horwitz M. Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the AP3B1 gene responsible for canine cyclic neutropenia. Nucl Acids Res 32:6327-33, 2004. Pubmed: 15576359.
Factor IX Deficiency or Haemophilia B, Gly379Glu mutation
Haemophilia B is a blood disease caused by a defect in the process of blood coagulation. This may lead to life-threatening bleeding. The disease follows an X-linked mode of inheritance, and is therefore typically observed as inherited from healthy female carriers to affected male offspring. There several different mutations that cause similar haemophilia B disease phenotypes. This tests the original c.1477A>G (or Gly379Glu) mutation found in mixed breeds, and another mutation discovered in the Lhasa Apso breed.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/) Faculty of Veterinary Science, University of Sydney; Feb. 2013, OMIA000438-9615

Scientific articles
Evans JP, Brinkhous KM, Brayer GD, Reisner HM, High KA. Canine Hemophilia-B Resulting from a Point Mutation with Unusual Consequences. Proceedings of the National Academy of Sciences of the United States of America 86:10095-10099, 1989. Pubmed: 2481310.


Mauser AE, Whitlark J, Whitney KM, Lothrop CD. A Deletion Mutation Causes Hemophilia B In Lhasa Apso Dogs. Blood, 88: 3451-3455, 1996
Factor IX Deficiency or Haemophilia B; mutation originally found in Lhasa Apso
Haemophilia B is a blood disease caused by a defect in the process of blood coagulation. This may lead to life-threatening bleeding. The disease follows an X-linked mode of inheritance, and is therefore typically observed as inherited from healthy female carriers to affected male offspring. There several different mutations that cause similar haemophilia B disease phenotypes. This tests the original c.1477A>G mutation found in mixed breeds, and another mutation discovered in the Lhasa Apso breed.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/) Faculty of Veterinary Science, University of Sydney; Feb. 2013, OMIA000438-9615

Scientific articles
Evans JP, Brinkhous KM, Brayer GD, Reisner HM, High KA. Canine Hemophilia-B Resulting from a Point Mutation with Unusual Consequences. Proceedings of the National Academy of Sciences of the United States of America 86:10095-10099, 1989. Pubmed: 2481310.


Mauser AE, Whitlark J, Whitney KM, Lothrop CD. A Deletion Mutation Causes Hemophilia B In Lhasa Apso Dogs. Blood, 88: 3451-3455, 1996
Factor VII Deficiency
Factor VII deficiency is a bleeding disorder due to defective blood coagulation. The tested mutation was reported in Beagles and Alaskan Klee Kai. The mode of inheritance is autosomal recessive.

References

Scientific articles
Kaae JA, Callan MB, Brooks MB. Hereditary factor VII deficiency in the Alaskan Klee Kai dog. J Vet Intern Med. Sep-Oct;21(5):976-81, 2007. Pubmed: 17939552


Callan MB, Aljamali MN, Margaritis P, Griot-Wenk ME, Pollak ES, Werner P, Giger U, High KA. A novel missense mutation responsible for factor VII deficiency in research Beagle colonies. J Thromb Haemost; 4: 2616-22, 2006.
Factor VIII deficiency or Haemophilia A; mutation originally found in German Shepherd Dog
Haemophilia A is a blood disease with the same symptoms as haemophilia B, which includes life-threatening bleeding. The disease is X-linked and is therefore inherited from females to male offspring and female offspring can become carriers. The causative mutation has been found in German Shepherd Dog.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA000437-9615

Scientific articles
Wilhelm C, Czwalinna A, Hoffmann M, Mischke R, Ganser A, Von Depka M. A mutation leading to a stop codon in the FVIII gene is the cause of severe canine Hemophilia A. J Thromb Haemost; 1 Sup. 1 July: P0672, 2013.
Glanzmann Thrombasthenia (GT), Type I; mutation originally found in Pyrenean Mountain Dog
Glanzmann Thrombasthenia (GT) type I is a blood disorder described in Pyrenean Mountain Dog and Otterhound. The disease causes propensity toward bleeding due to poor blood platelet aggregation, which can potentially be life threatening during trauma or surgery. GT follows autosomal recessive inheritance. The MyDogDNA panel currently tests only for the GT mutation described in Pyrenean Mountain Dog.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, March 2013, OMIA001000-9615

Scientific articles
Lipscomb DL, Bourne C, Boudreaux MK Two genetic defects in alphaIIb are associated with type I Glanzmann's thrombasthenia in a Great Pyrenees dog: a 14-base insertion in exon 13 and a splicing defect of intron 13. Vet Pathol.37(6):581-588, 2000 Pubmed: 11105947
Glycogen Storage Disease VII or Hereditary Phosphofructokinase (PFK) Deficiency
Hereditary Phosphofructokinase (PFK) Deficiency, also known as Glycogen Storage Disease VII, is a blood disorder affecting multiple breeds. Affected dogs suffer from hemolytic anemia, hemolytic crises, pigmenturia and mild metabolic myopathy. The disorder follows an autosomal recessive mode of inheritance.

References

Scientific articles
Gerber K, Harvey JW, D'Agorne S, Wood J, Giger U. Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets. Vet Clin Pathol 38(1):46-51, 2009 Pubmed: 19228357

Giger U, Harvey JW, Yamaguchi RA, McNulty PK, Chiapella A, Beutler E. Inherited phosphofructokinase deficiency in dogs with hyperventilation-induced hemolysis: increased in vitro and in vivo alkaline fragility of erythrocytes. Blood 65(2):345-51, 1985 Pubmed: 3155631

Hillström A, Tvedten H, Rowe A, Giger U. Hereditary phosphofructokinase deficiency in wachtelhunds. J Am Anim Hosp Assoc 47(2):145-50, 2011 Pubmed: 21311071

Inal Gultekin G, Raj K, Lehman S, Hillström A, Giger U. Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog. Mol Cell Probes 26(6):243-247, 2012 Pubmed: 22446493

Smith BF, Stedman H, Rajpurohit Y, Henthorn PS, Wolfe JH, Patterson DF, Giger U. Molecular basis of canine muscle type phosphofructokinase deficiency. J BiolChem 16;271(33):20070-20074, 1996 Pubmed: 8702726

Vora S, Giger U, Turchen S, Harvey JW. Characterization of the enzymatic lesion in inherited phosphofructokinase deficiency in the dog: an animal analogue of human glycogen storage disease type VII. Proc Natl Acad Sci U S A 82(23):8109-13, 1985 Pubmed: 2933748
May-Hegglin Anomaly (MHA)
May-Hegglin Anomaly (MHA) is a blood disorder so far described in Pugs. MHA causes deficiency and structural abnormalities of blood platelet cells. The mode of inheritance has not been confirmed, but autosomal dominant as in the human disease is possible.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA001608-9615

Scientific articles
Flatland B, Fry MM, Baek SJ, Bahn JH, LeBlanc CJ, Dunlap JR, Carroll RC, Kosiba DJ, Millsaps DJ, Schleis SE May-Hegglin anomaly in a dog. Vet Clin Pathol. 40(2):207-214, 2011 Pubmed: 21554370
Pyruvate Kinase Deficiency of Erythrocyte; mutation originally found in Beagle
Pyruvate kinase deficiency is an autosomally recessively inherited metabolic disorder affecting the function of red blood cells. Symptoms are decreased activity, pale mucous membranes and enlargement of the spleen, followed by abnormal bone thickening and scarring of bone marrow.

Additional details

This mutation has originally been found in Beagle. Other mutations are known to cause the same disease in Basenji, West Highland Terrier, Pug and Labrador retriever.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/)
Faculty of Veterinary Science, University of Sydney; OMIA 000844-9615

Scientific articles
Searcy GP, Miller DR, Tasker JB Congenital hemolytic anemia in the Basenji dog due to erythrocyte pyruvate kinase deficiency. Can J Comp Med 35:67-70, 1971. Pubmed: 6026872

Whitney KM, Lothrop CD Genetic test for pyruvate kinase deficiency of basenjis . J AM VET MED ASSOC 207:918-921, 1995. Pubmed: 7559024

Giger, U., Noble, N.A. Determination of Erythrocyte Pyruvate Kinase Deficiency in Basenjis with Chronic Hemolytic Anemia. J AM VET MED ASSOC 198:1755-1761, 1991 Pubmed: 2071475

Gultekin GI, Raj K, Foureman P, Lehman S, Manhart K, Abdulmalik O, Giger U Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and seconday hemochromatosis in dogs. J AM VET MED ASSOC 26:935-44, 2012 Pubmed: 22805166
Pyruvate Kinase Deficiency of Erythrocyte; mutation originally found in Labrador Retriever
Pyruvate kinase deficiency is an autosomally recessively inherited metabolic disorder affecting the function of red blood cells. Its symptoms are decreased activity, pale mucous membranes and enlargement of the spleen, followed by abnormal bone thickening and scarring of bone marrow.

Additional details

This mutation has originally been found in Labrador retriever. Other mutations causing the same disease are found in West Highland Terrier, Pug, Beagle and Basenji.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/)
Faculty of Veterinary Science, University of Sydney; OMIA 000844-9615

Scientific articles
Searcy GP, Miller DR, Tasker JB Congenital hemolytic anemia in the Basenji dog due to erythrocyte pyruvate kinase deficiency. Can J Comp Med 35:67-70, 1971. Pubmed: 6026872

Whitney KM, Lothrop CD Genetic test for pyruvate kinase deficiency of basenjis . J AM VET MED ASSOC 207:918-921, 1995. Pubmed: 7559024

Giger, U., Noble, N.A. Determination of Erythrocyte Pyruvate Kinase Deficiency in Basenjis with Chronic Hemolytic Anemia. J AM VET MED ASSOC 198:1755-1761, 1991 Pubmed: 2071475

Gultekin GI, Raj K, Foureman P, Lehman S, Manhart K, Abdulmalik O, Giger U Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and seconday hemochromatosis in dogs. J AM VET MED ASSOC 26:935-44, 2012 Pubmed: 22805166
Pyruvate Kinase Deficiency of Erythrocyte; mutation originally found in Pug
Pyruvate kinase deficiency is an autosomally recessively inherited metabolic disorder affecting the function of red blood cells. Symptoms are decreased activity, pale mucous membranes and enlargement of the spleen, followed by abnormal bone thickening and scarring of bone marrow.

Additional details

This mutation has originally been found in Pug. Other mutations causing the same disease are found in Basenji, West Highland Terrier, Beagle and Labrador retriever.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/)
Faculty of Veterinary Science, University of Sydney; OMIA 000844-9615

Scientific articles
Searcy GP, Miller DR, Tasker JB Congenital hemolytic anemia in the Basenji dog due to erythrocyte pyruvate kinase deficiency. Can J Comp Med 35:67-70, 1971. Pubmed: 6026872

Whitney KM, Lothrop CD Genetic test for pyruvate kinase deficiency of basenjis . J AM VET MED ASSOC 207:918-921, 1995. Pubmed: 7559024

Giger, U., Noble, N.A. Determination of Erythrocyte Pyruvate Kinase Deficiency in Basenjis with Chronic Hemolytic Anemia. J AM VET MED ASSOC 198:1755-1761, 1991 Pubmed: 2071475

Gultekin GI, Raj K, Foureman P, Lehman S, Manhart K, Abdulmalik O, Giger U Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and seconday hemochromatosis in dogs. J AM VET MED ASSOC 26:935-44, 2012 Pubmed: 22805166
Pyruvate Kinase Deficiency of Erythrocyte; mutation originally found in West Highland White Terrier
Pyruvate kinase deficiency is an autosomally recessively inherited metabolic disorder affecting the function of red blood cells. Symptoms are decreased activity, pale mucous membranes and enlargement of the spleen, followed by abnormal bone thickening and scarring of bone marrow. The mutation causing the disease has so far been found in West Highland Terrier. Other mutations causing the disease are known for Basenji, Pug, Beagle and Labrador retriever.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/)
Faculty of Veterinary Science, University of Sydney; OMIA 000844-9615

Scientific articles
Searcy GP, Miller DR, Tasker JB Congenital hemolytic anemia in the Basenji dog due to erythrocyte pyruvate kinase deficiency. Can J Comp Med 35:67-70, 1971. Pubmed: 6026872

Whitney KM, Lothrop CD Genetic test for pyruvate kinase deficiency of basenjis . J AM VET MED ASSOC 207:918-921, 1995. Pubmed: 7559024

Giger, U., Noble, N.A. Determination of Erythrocyte Pyruvate Kinase Deficiency in Basenjis with Chronic Hemolytic Anemia. J AM VET MED ASSOC 198:1755-1761, 1991 Pubmed: 2071475

Gultekin GI, Raj K, Foureman P, Lehman S, Manhart K, Abdulmalik O, Giger U Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and seconday hemochromatosis in dogs. J AM VET MED ASSOC 26:935-44, 2012 Pubmed: 22805166
Trapped Neutrophil Syndrome (TNS)
Trapped Neutrophil Syndrome (TNS) as a blood disorder causing neutropenia (low number of neutrophil cells in the blood) and bone marrow hyperplasia. This leads to chronic infections, poor growth and delayed development, and shortened life expectancy The disorder was described in Border Collies. TNS follows autosomal recessive inheritance.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA001428-9615

Scientific articles
Shearman JR, Wilton AN A canine model of Cohen syndrome: Trapped Neutrophil Syndrome. BMC Genomics. 23;12:258, 2011 Pubmed: 21605373

Immunological disorders

Name
Description
ARSCID (Autosomal Recessive Severe Combined Immunodeficiency)
ARSCID is a severe autosomal recessive immune deficiency originally found in Jack Russell Terriers.

Additional details

The disease manifests in young puppies, which have fewer lymphocytes in their blood (lymphopenia) and show incomplete development of the lymphoid tissue (lymphoid hypoplasia).

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/) Faculty of Veterinary Science, University of Sydney; Feb. 2013, OMIA000220-9615


Scientific articles
Meek K, Kienker L, Dallas C, Wang W, Dark MJ, Venta PJ, Huie ML, Hirschhorn R, Bell T. SCID in Jack Russell terriers: a new animal model of DNA-PKcs deficiency. J Immunol 167:2142-50, 2001. Pubmed: 11489998
C3 deficiency
C3 deficiency is an immunological condition that makes the affected more susceptible to bacterial infections, and development of potentially fatal kidney disease. The disease was found in a pedigree of Brittany spaniels, in which it followed autosomal recessive inheritance.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/).
Faculty of Veterinary Science, University of Sydney; OMIA000155-9615


Scientific articles
Ameratunga, R., Winkelstein, J.A., Brody, L., Binns, M., Cork, L.C., Colombani, P., Valle, D. Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency. J Immunol 160:2824-30, 1998. Pubmed: 9510185


Johnson JP, McLean RH, Cork LC, Winkelstein JA. Genetic analysis of an inherited deficiency of the third component of complement in Brittany spaniel dogs. Am J Med Genet 25:557-562, 1986. Pubmed: 3789016
X-linked Severe Combined Immunodeficiency (XSCID); mutation originally found in Basset Hound
X-linked Severe Combined Immunodeficiency (X-SCID) is a potentially fatal dysfunction of the immune system reported in Basset Hound and Cardigan Welsh Corgi. Affected dogs are susceptible to multiple infections, which may manifest as vomiting and diarrhea. The mode of Inheritance is X-linked recessive.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/).
Faculty of Veterinary Science, University of Sydney; OMIA000899-9615




Scientific articles
Henthorn PS, Somberg RL, Fimiani VM, Puck JM, Patterson DF, Felsburg PJ. IL-2R gamma gene microdeletion demonstrates that canine X- linked severe combined immunodeficiency is a homologue of the human disease. Genomics 23:69-74, 1994. Pubmed: 7829104

Somberg RL, Pullen RP, Casal ML, Patterson DF, Felsburg PJ, Henthorn PS. A single nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency disease. Veterinary Immunology & Immunopathology 47:203-213, 1995.
X-linked Severe Combined Immunodeficiency (XSCID); mutation originally found in Cardigan Welsh Corgi
X-linked Severe Combined Immunodeficiency (X-SCID) is a potentially fatal dysfunction of the immune system reported in Basset Hound and Cardigan Welsh Corgi. Affected dogs are susceptible to multiple infections, which may manifest as vomiting and diarrhea. The mode of Inheritance is X-linked recessive.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/).
Faculty of Veterinary Science, University of Sydney; OMIA000899-9615




Scientific articles
Henthorn PS, Somberg RL, Fimiani VM, Puck JM, Patterson DF, Felsburg PJ. IL-2R gamma gene microdeletion demonstrates that canine X- linked severe combined immunodeficiency is a homologue of the human disease. Genomics 23:69-74, 1994. Pubmed: 7829104

Somberg RL, Pullen RP, Casal ML, Patterson DF, Felsburg PJ, Henthorn PS. A single nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency disease. Veterinary Immunology & Immunopathology 47:203-213, 1995.

Endocrine disorders

Name
Description
Hypothyroidism; mutation originally found in Tenterfield Terrier
Hypothyroidism with goiter is a condition caused by a deficiency in the function of the thyroid gland. The tested mutations were confirmed as the cause of hypothyroidism in Toy Fox Terriers, Rat Terriers and Tenterfield Terriers. Commons symptoms of hypothyroidism are mental impairment, slow growth and disproportionality or dwarfism. Goitre (swelling of the thyroid gland) is also observed. The mode of inheritance of this condition is autosomal recessive.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/).
Faculty of Veterinary Science, University of Sydney; OMIA000536-9615

Scientific articles
Fyfe JC, Lynch M, Olsen J, Louёr E. A thyroid peroxidase (TPO) mutation in dogs reveals a canid-specific gene structure. Mamm Genome :, 2012. Pubmed: 23223904

Bojanic K, Acke E, Jones B. Congenital hypothyroidism of dogs and cats: A review. N Z Vet J 59:115-22, 2011. Pubmed: 21541884

Fyfe JC, Kampschmidt K, Dang V, Poteet BA, He Q, Lowrie C, Graham PA, Fetro VM. Congenital hypothyroidism with goiter in toy fox terriers.  J Vet Intern Med 17:50-7, 2003. Pubmed: 12564727

Pettigrew, R., Fyfe, J.C., Gregory, B.L., Lipsitz, D., Delahunta, A., Summers, B.A., Shelton, G.D. CNS hypomyelination in Rat Terrier dogs with congenital goiter and a mutation in the thyroid peroxidase gene. Anim Vet Pathol 44:50-6, 2007. Pubmed: 17197623
Hypothyroidism; mutation originally found in Toy Fox- and Rat Terrier
Hypothyroidism with goiter is a condition caused by a deficiency in the function of the thyroid gland. The tested mutations were confirmed as the cause of hypothyroidism in Toy Fox Terriers, Rat Terriers and Tenterfield Terriers. Common symptoms of hypothyroidism are mental impairment, slow growth and disproportionality or dwarfism. Goitre (swelling of the thyroid gland) is also observed. The mode of inheritance of this condition is autosomal recessive.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/).
Faculty of Veterinary Science, University of Sydney; OMIA000536-9615

Scientific articles
Fyfe JC, Lynch M, Olsen J, Louёr E. A thyroid peroxidase (TPO) mutation in dogs reveals a canid-specific gene structure. Mamm Genome :, 2012. Pubmed: 23223904

Bojanic K, Acke E, Jones B. Congenital hypothyroidism of dogs and cats: A review. N Z Vet J 59:115-22, 2011. Pubmed: 21541884

Fyfe JC, Kampschmidt K, Dang V, Poteet BA, He Q, Lowrie C, Graham PA, Fetro VM. Congenital hypothyroidism with goiter in toy fox terriers.  J Vet Intern Med 17:50-7, 2003. Pubmed: 12564727

Pettigrew, R., Fyfe, J.C., Gregory, B.L., Lipsitz, D., Delahunta, A., Summers, B.A., Shelton, G.D. CNS hypomyelination in Rat Terrier dogs with congenital goiter and a mutation in the thyroid peroxidase gene. Anim Vet Pathol 44:50-6, 2007. Pubmed: 17197623

Skin disorders

Name
Description
Ectodermal dysplasia or Skin Fragility Syndrome (ED-SFS)
Ectodermal Dysplasia-Skin Fragility Syndrome (ED-SFS) is a severe skin disorder documented in Chesapeake Bay Retriever Dogs. Affected dogs suffer from sloughing of the skin from birth. The disease is caused by a mutation in the PKP1 gene and it follows autosomal recessive inheritance.

References

Scientific articles
Olivry T, Linder KE, Wang P, Bizikova P, Bernstein JA, Dunston SM, Paps JS, Casal ML Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs. PLoS One. 7(2):e32072, 2012 Pubmed: 22384142
Epidermolysis bullosa, dystrophic
Dystrophic Epidermolysis Bullosa is a skin disorder described in Golden Retrievers. Affected dogs suffer from blistering of the skin and lesions in the oral cavity and upper digestive tract. The disease is caused by a mutation in the COL7A1 gene and its mode of inheritance is autosomal recessive.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, March 2013, OMIA000341-9615

Scientific articles
Baldeschi C, Gache Y, Rattenholl A, Bouillé P, Danos O, Ortonne JP,
Bruckner-Tuderman L, Meneguzzi G Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet. 1;12(15):1897-1905, 2003 Pubmed: 12874109

Palazzi X, Marchal T, Chabanne L, Spadafora A, Magnol JP, Meneguzzi G Inherited dystrophic epidermolysis bullosa in inbred dogs: A spontaneous animal model for somatic gene therapy. J Invest Dermatol. 115(1):135-137, 2000 Pubmed: 10886525
Epidermolytic Hyperkeratosis or Ichthyosis in Norfolk Terrier
Epidermolytic Hyperkeratosis is a skin disorder described in Norfolk Terriers. Clinical signs include fragile skin, hyperkeratosis and hyperpigmentation. The disease is caused by a mutation in the KRT10 gene and it is inherited as an autosomal recessive trait.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, March 2013 OMIA001415-9615

Scientific articles
Credille KM, Barnhart KF, Minor JS, Dunstan RW Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs. Br J Dermatol. 153(1):51-58, 2005 Pubmed: 16029326
Musladin-Lueke syndrome (MLS)
Musladin-Lueke Syndrome (MLS) is a disorder causing skin and joint problems, and abnormal facial features in Beagles. The affected Beagles have thick, tight skin, stiff joints, broad skull with big skewed eyes, happy nature and are smaller than normal Beagles. The condition is inherited in an autosomal recessive mode.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, March 2013, OMIA001509-9615

Scientific articles
Bader HL, Ruhe AL, Wang LW, Wong AK, Walsh KF, Packer RA, Mitelman J, Robertson KR, O'Brien DP, Broman KW, Shelton GD, Apte SS, Neff MW. An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures. PLoS One. 17;5(9) e12871, 2010 Pubmed: 20862248

Metabolic disorders

Name
Description
Glycogen Storage Disease, Type Ia (GSDIa)
Glycogen Storage Disease GSD Type Ia (GSDIa) is a severe metabolic disorder described in Maltese Terriers. Failure in glucose metabolism causes hypoglycemia (decreased blood sugar), lactic acidosis (lowered blood pH), coma and death. The disease is inherited in an autosomal recessive manner.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, March 2013, OMIA000418-9615

Scientific articles
Kishnani PS, Faulkner E, VanCamp S, Jackson M, Brown T, Boney A, Koeberl D, Chen YT Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia). Vet Pathol. 38(1):83-91, 2001 Pubmed: 11199168

Kishnani PS, Bao Y, Wu JY, Brix AE, Lin JL, Chen YT Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia. Biochem Mol Med. 61(2):168-177, 1997 Pubmed: 9259982

Specht A, Fiske L, Erger K, Cossette T, Verstegen J, Campbell-Thompson M, Struck MB, Lee YM, Chou JY, Byrne BJ, Correia CE, Mah CS, Weinstein DA, Conlon TJ Glycogen storage disease type Ia in canines: a model for human metabolic and genetic liver disease. J Biomed Biotechnol. 2011:646257, 2011 Pubmed: 21318173
Glycogen Storage Disease, type II or Pompe's disease
Glycogen storage disease type II is a a disorder of glycogen metabolism discovered in Finnish Lapphund, Swedish Lapphund and Lapponian Herder. The disease can manifest as vomiting, poor growth, frequent panting, heart abnormalities, and muscle weakness with exercise intolerance. Affected dogs are typically euthanized before 2 years of age due to progressive symptom severity. The disease shows autosomal recessive inheritance.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA 000419-9615

Scientific article
Seppälä EH, Reuser AJJ, Lohi H. A Nonsense Mutation in the Acid α-Glucosidase Gene Causes Pompe Disease in Finnish and Swedish Lapphunds. PLoS ONE 8(2): e56825, 2013. Pubmed: 23457621.

Walvoort HC, Dormans JA, van den Ingh TS. Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease). J Inherit Metab Dis 8:38-46, 1985. Pubmed: 3921759.

Walvoort HC, Slee RG, Sluis KJ, Koster JF, Reuser AJ. Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency). Am J Med Genet 19:589-98, 1984. Pubmed: 6391168.
Glycogen Storage Disease, type IIIa (GSDIIIa)
Glycogen Storage Disease type IIIa is a disorder of glycogen metabolism that is well described in Curly Coated Retrievers. The disease can manifest as fatigue, exercise intolerance or collapse. The disease is caused by a deletion in the AGL gene, and it shows autosomal recessive inheritance.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA 001577-9615

Scientific articles
Gregory BL, Shelton GD, Bali DS, Chen YT, Fyfe JC. Glycogen storage disease type IIIa in curly-coated retrievers. J Vet Intern Med 21:40-6, 2007. Pubmed: 17338148.
Hypocatalasia or Acatalasemia
Hypocatalasia, a deficiency of catalase enzyme activity in red blood cells, has been studied in a research colony of Beagles, as it resembles a human condition called Takaharas’ disease. In this disease, especially the oral cavity is damaged due to progressive gangrene (tissue death). To our knowledge, the exact mode of inheritance is unconfirmed. Autosomal recessive with varying degrees of penetrance is suggested, including carriers showing symptoms due varying levels of catalase enzyme activity.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/).
Faculty of Veterinary Science, University of Sydney; OMIA001138-9615

Scientific articles
Nakamura, K., Watanabe, M., Takanaka, K., Sasaki, Y., Ikeda, T. cDNA cloning of mutant catalase in acatalasemic beagle dog: single nucleotide substitution leading to thermal-instability and enhanced proteolysis of mutant enzyme.  International Journal of Biochemistry & Cell Biology 32:1183-1193, 2000. Pubmed: 11137458

Nakamura K, Watanabe M, Sasaki Y, Ikeda T. Purification and characterization of liver catalase in acatalasemic beagle dog: comparison with normal dog liver catalase. Int J Biochem Cell Biol 32:89-98, 2000. Pubmed: 10661897
Mucopolysaccharidosis Type IIIA (MPSIIIA); mutation originally found in Dachshund
This mutation causing Type 3A mucopolysaccharidosis (MPS) was discovered in Dachshunds. The mutation resides in the SGSH gene. Affected dogs suffer from pelvic limb ataxia that includes deficits in coordination of movement, and exaggerated reflexes. The disease progresses to severe generalized spinocerebellar ataxia (SCA) at five years of age. The inheritance pattern is autosomal recessive.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/).
Faculty of Veterinary Science, University of Sydney; OMIA001309-9615

Scientific articles
Yogalingam G, Pollard T, Gliddon B, Jolly RD, Hopwood JJ. Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs. Genomics 79:150-153, 2002. Pubmed: 11829484


Aronovich EL, Carmichael KP, Morizono H, Koutlas IG, Deanching M, Hoganson G, Fischer A, Whitley CB. Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds. Genomics 68:80-84, 2000. Pubmed: 10950929
Mucopolysaccharidosis Type VI (MPSVI); mutation originally found in Poodle
This mucopolysaccharidosis (Type VI MPS) affects Miniature- or Toy Poodles. This metabolic disorder is caused by a mutation in the ARSB gene. Puppies may be deformed upon birth due to severe skeletal lesions, and are consequently often euthanized. Other symptoms are joint overlaxity and an enlarged heart. The mode of inheritance of this disorder is autosomal recessive.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/).
Faculty of Veterinary Science, University of Sydney; OMIA000666-9615

Scientific articles
Jolly RD, Hopwood JJ, Marshall NR, Jenkins KS, Thompson DJ, Dittmer KE, Thompson JC, Fedele AO, Raj K, Giger U. Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene. N Z Vet J 60:183-8, 2012. Pubmed: 22329490
Mucopolysaccharidosis Type VII (MPSVII); mutation originally found in Brazilian Terrier
Mucopolysaccharidosis Type VII (MPSVII) is a metabolic disorder that affects skeletal development. In Brazilian Terriers, the disease manifests as a severe skeletal dysplasia where pups are unable to walk properly due to deformed legs and joints. The disease is inherited in an autosomal recessive manner.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/)
Faculty of Veterinary Science, University of Sydney; Feb. 2013; OMIA000667-9615

Scientific articles
Ray J, Bouvet A, Desanto C, Fyfe JC, Xu DB, Wolfe JH, Aguirre GD, Patterson DF, Haskins ME, Henthorn PS Cloning of the canine beta-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells Genomics 48:248-253, 1998. Pubmed: 9521879

Hytönen MK, Arumilli M, Lappalainen AK, Kallio H, Snellman M, Sainio K, Lohi H A Novel GUSB Mutation in Brazilian Terriers with Severe Skeletal Abnormalities Defines the Disease as Mucopolysaccharidosis, PLoS One 7:e40281, 2012. Pubmed: 22815736

Ray J, Scarpino V, Laing C, Haskins ME, Biochemical basis of the beta-glucuronidase gene defect causing canine mucopolysaccharidosis VII . J Hered 90:119-123, 1999. Pubmed: 9987917
Pyruvate Dehydrogenase Deficiency
PDP1 deficiency is an autosomal recessive disease reported in Clumber and Sussex spaniels. The affected animals suffer from exercise intolerance and lactic acidosis.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/)
Faculty of Veterinary Science, University of Sydney; OMIA001406-9615


Scientific articles

Cameron JM, Maj MC, Levandovskiy V, MacKay N, Shelton GD, Robinson BH. Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Mol Genet Metab 90:15-23, 2007. Pubmed: 17095275

Other disorders

Name
Description
Congenital Keratoconjuctivitis Sicca and Ichthyosiform Dermatosis (CKCSID) or Dry Eye Curly Coat Syndrome
Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis (CKCSID), also called "dry eye curly coat syndrome", is a congenital skin disorder affecting Cavalier King Charles Spaniels. The disease causes eye, nail, skin and dental problems. CKCSID is inherited as an autosomal recessice trait.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, March 2013, OMIA001683-9615

Scientific articles
Forman OP, Penderis J, Hartley C, Hayward LJ, Ricketts SL, Mellersh CS Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed. PLoS Genet. 8(1):e1002462, 2012 Pubmed: 22253609
Gallbladder Mucocele Formation
Gallbladder Mucocele Formation affects multiple breeds. In this disorder, the gallbladder is filled with mucous matter. Symptoms include pancreatitis, hyperlipidemia and gallstones. Gallbladder Mucocele Formation is inherited in an autosomal dominant manner with incomplete penetrance.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, March 2013, OMIA001524-9615

Scientific articles
Aguirre AL, Center SA, Randolph JF, Yeager AE, Keegan AM, Harvey HJ, Erb HN Gallbladder disease in Shetland Sheepdogs: 38 cases (1995-2005). J Am Vet Med Assoc. 1;231(1):79-88, 2007 Pubmed: 17605668

Mealey KL, Minch JD, White SN, Snekvik KR, Mattoon JS An insertion mutation in ABCB4 is associated with gallbladder mucocele formation in dogs. Comp Hepatol. 3;9:6, 2010 Pubmed: 20598156
Narcolepsy; mutation originally found in Dobermann
Narcolepsy is a sleep disorder that potentially affects many different breeds including Dobermans and Labrador retrievers. An affected animal suffers transient cataplexic attacks during which it suddenly collapses and sometimes falls asleep.

Additional details

Narcolepsy is a sleep disorder that potentially affects many different breeds including Dobermans and Labrador retrievers. An affected animal suffers transient cataplexic attacks during which it suddenly collapses and sometimes falls asleep. The inheritance model is autosomal recessive.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/) Faculty of Veterinary Science, University of Sydney, Feb 2013; OMIA 000703-9615

Scientific articles
Lin L, Faraco J, Li R, Kadotani H, Rogers W, Lin XY, Qiu XH, de Jong PJ, Nishino S, Mignot E. The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. Cell 98:365-376, 1999. Pubmed: 10458611

Hungs M, Fan J, Lin L, Lin XY, Maki RA, Mignot E. Identification and functional analysis of mutations in the Hypocretin (Orexin) genes of narcoleptic canines. Gen Res 11:531-539, 2001. Pubmed: 11282968

Tonokura M, Fujita K, Nishino S. Review of pathophysiology and clinical management of narcolepsy in dogs. Vet Rec 161:375-80, 2007 Pubmed: 17873267
Persistant Mullerian Duct Syndrome (PMDS), mutation originally found in Miniature Schnauzer
Persistent Müllerian Duct Syndrome (PMDS) is a disorder of sexual development affecting male Miniature Schnauzers. PMDS is characterized by Müllerian duct derivatives in otherwise externally normal-appearing males. The condition is inherited in a sex-limited autosomal recessive manner, meaning that the disease is only manifested in males, although it is also inherited via healthy females.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, March 2013 OMIA000791-9615

Scientific articles
Wu X, Wan S, Pujar S, Haskins ME, Schlafer DH, Lee MM, Meyers-Wallen VN A single base pair mutation encoding a premature stop codon in the MIS type II receptor is responsible for canine persistent Müllerian duct syndrome. J Androl. 30(1):46-56, 2009 Pubmed: 18723470
Primary Ciliary Dyskinesia (PCD)
Primary Ciliary Dyskinesia (PCD) is a disorder causing recurrent respiratory tract inflammations, infertility in males and situs inversus (mirrored internal organs) in multiple breeds. In Bobtails PCD is caused by a mutation in the CCDC39 gene and it follows autosomal recessive inheritance.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA001540-9615

Scientific articles
Merveille AC, Davis EE, Becker-Heck A, Legendre M, Amirav I, Bataille G, Belmont J, Beydon N, Billen F, Clément A, Clercx C, Coste A, Crosbie R, de Blic J, Deleuze S, Duquesnoy P, Escalier D, Escudier E, Fliegauf M, Horvath J, Hill K, Jorissen M, Just J, Kispert A, Lathrop M, Loges NT, Marthin JK, Momozawa Y, Montantin G, Nielsen KG, Olbrich H, Papon JF, Rayet I, Roger G, Schmidts M, Tenreiro H, Towbin JA, Zelenika D, Zentgraf H, Georges M, Lequarré AS, Katsanis N, Omran H, Amselem S CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet. 43(1):72-78, 2011 Pubmed: 21131972

Skeletal disorders

Name
Description
Chondrodysplasia (dwarfism); mutation originally found in Norwegian Elkhound and Karelian Bear Dog
Chondrodysplasia is a skeletal disorder caused by developmental defects in the ossification of bones and vertebrae, which manifests as dwarfism. Affected dogs are 10 to 15 cm lower than their siblings. Chondrodysplasia is inherited as an autosomal recessive trait. This mutation was first identified in Norwegian elkhounds and later in Karelian Bear Dogs.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, May 2013; OMIA000187-9615

Scientific articles
Kyöstilä K ja Lohi H. Manuscript in preparation.

Bingel SA, Sande RD Chondrodysplasia in the Norwegian Elkhound. Am J Pathol. 1982 May;107(2):219-229, 1982 Pubmed: 7081383
Craniomandibular Osteopathy (CMO)
Craniomandibular osteopathy (CMO) is a proliferative disorder of skull and jaw bones that mainly affects some terrier breeds, such as Cairn Terrier, Scottish Terrier, and West Highland White Terrier.

Additional details

Craniomandibular osteopathy (CMO) is a proliferative disorder of skull and jaw bones that mainly affects some terrier breeds, such as Cairn Terrier, Scottish Terrier, and West Highland White Terrier. The disease most closely follows autosomal dominant inheritance with incomplete penetrance. Heterozygotes, carrying one copy of the causative mutation, are at low risk of developing CMO compared to mutant homozygotes. Due to the incomplete penetrance and individual variation in expressivity, not all dogs tested “Carrier” or “Affected” will manifest this condition.
Osteogenesis imperfecta (OI) or Brittle Bone Disease; mutation originally found in Dachshund
Osteogenesis imperfecta (OI) is found in several breeds. This tested mutation was confirmed as the molecular cause of OI in Dachshunds. OI is an autosomal recessive skeletal disease that is characterized by fragile bones and loose joints (hyperlaxity). Other symptoms are weak or deformed teeth, spine problems and hearing loss.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/) Faculty of Veterinary Science, University of Sydney; OMIA0001583-9615

Scientific articles
Drögemüller C, Becker D, Brunner A, Haase B, Kircher P, Seeliger F, Fehr M, Baumann U, Lindblad-Toh K, Leeb T. A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. PLoS Genet 5:e1000579, 2009. Pubmed: 19629171

Schutz E, Drögemüller C, Scharfenstein M, Brenig B. Osteogenesis imperfect in the Dachshund. Kleintierpraxis 57:57-62, 2012.

Eckardt J, Kluth S, Dierks C, Philipp U, Distl O. Population screening for the mutation associated with osteogenesis imperfecta in dachshunds. Vet Rec: 1, 2013. Pubmed: 23315765
Skeletal Dysplasia 2 (SD2)
Skeletal dysplasia 2 (SD2) is an abnormality of skeletal development that causes mild disproportionate dwarfism or short-leggedness in Labrador Retrievers. The mutation has so far primarily been described in working lines of this breed. The mode of inheritance is autosomal recessive. The causative mutation is in the COL11A2 gene.

References

Scientific articles
Frischknecht M, Niehof-Oellers H, Jagannathan V, Owczarek-Lipska M, Drögemüller C, Dietschi E, Tellhelm B, Lang J, Tiira K, Lohi H, Leeb T. A COL11A2 mutation in Labrador Retrievers with mild disproportionate dwarfism. PlosOne 8(3): e60149, 2013.

Neurological disorders

Name
Description
Benign Familial Juvenile Epilepsy or Remitting Focal Epilepsy
BFJE is a neurological disease characterized by epileptic seizures, and it affects the Lagotto Romagnolo breed. The inheritance pattern is autosomal recessive, although some carriers (about 7 %) might manifest symptoms. This form of epilepsy is relatively benign, as the seizures typically end after 4 months of age.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA001596-9615

Scientific articles
Seppälä EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen SK, Steffen F, Dietschi E, Leeb T, Eklund R, Zhao X, Rilstone JJ, Lindblad-Toh K, Minassian BA, Lohi H. LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs. PLoS Genet 7(7): e1002194, 2011, doi:10.1371/journal.pgen.1002194
Cerebellar abiotrophy or neonatal cerebellar cortical degeneration (NCCD)
NCCD is a neurodegenerative disease that affects cerebellar function and consequently the motorics of the dog. Affected dogs show abnormalities in balance, and coordination of walking. The mode of inheritance is autosomal recessive and a causative mutation was reported in Beagles.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/)
Faculty of Veterinary Science, University of Sydney; OMIA000175-9615

Scientific articles

Forman OP, De Risio L, Stewart J, Mellersh CS, Beltran E. Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genet 13:55, 2012. Pubmed: 22781464

Kent M, Glass E, de Lahunta A. Cerebellar cortical abiotrophy in a beagle. J Small Anim Pract 2000, 41(7):321–323.
Fetal-onset Neuroaxonal Dystrophy (FNAD)
Dogs with fetal onset neuraxonal dystrophy die upon birth because of underdevelopment of the central nervous system and the skeletal musculature. This mutation was discovered in a laboratory colony of dogs, and its prevalence in natural populations remains to be determined. The mode of inheritance is autosomal recessive.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/).
Faculty of Veterinary Science, University of Sydney;OMIA: 000715-9615


Scientific articles
Fyfe JC, Al-Tamimi RA, Liu J, Schäffer AA, Agarwala R, Henthorn PS. A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. Neurogenetics 12:223-32, 2011. Pubmed: 21643798

Fyfe JC, Al-Tamimi RA, Castellani RJ, Rosenstein D, Goldowitz D, Henthorn PS. Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia. J Comp Neurol 518:3771-84, 2010. Pubmed: 20653033
L-2-Hydroxyglutaric aciduria (L2HGA); mutation 1 originally found in Staffordshire Bull Terrier
L-2-Hydroxyglutaric aciduria (L2HGA) is a neurometabolic disorder mainly found in Staffordshire Bull Terriers and Yorkshire Terriers. The disease shows autosomal recessive inheritance and it is caused by a mutation in the L2HGDH gene.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA 001371-9615

Scientific articles
Abramson CJ, Platt SR, Jakobs C, Verhoeven NM, Dennis R, Garosi L, Shelton GD. L-2-Hydroxyglutaric aciduria in Staffordshire Bull Terriers. J Vet Intern Med 17:551-6, 2003. Pubmed: 12892307.

Farias FH, Zeng R, Johnson GS, Shelton GD, Paquette D, O'Brien DP. A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria. BMC Vet Res 8:124, 2012. Pubmed: 22834903.

Penderis, J, Calvin, J, Abramson, C, Jakobs, C, Pettitt, L, Binns, MM, Verhoeven, NM, O'Driscoll, E, Platt, SR, Mellersh, CS L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. J Med Genet 44:334-40, 2007. Pubmed: 17475916.

Sanchez-Masian DF, Artuch R, Mascort J, Jakobs C, Salomons G, Zamora A, Casado M, Fernandez M, Recio A, Lujan A. L-2-hydroxyglutaric aciduria in two female Yorkshire terriers. J Am Anim Hosp Assoc 48:366-71, 2012. Pubmed: 22843824.
L-2-Hydroxyglutaric aciduria (L2HGA); mutation 2 originally found in Staffordshire Bull Terrier
L-2-Hydroxyglutaric aciduria (L2HGA) is a neurometabolic disorder mainly found in Staffordshire Bull Terriers and Yorkshire Terriers. The disease shows autosomal recessive inheritance and it is caused by a mutation in the L2HGDH gene.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA 001371-9615

Scientific articles
Abramson CJ, Platt SR, Jakobs C, Verhoeven NM, Dennis R, Garosi L, Shelton GD. L-2-Hydroxyglutaric aciduria in Staffordshire Bull Terriers. J Vet Intern Med 17:551-6, 2003. Pubmed: 12892307.

Farias FH, Zeng R, Johnson GS, Shelton GD, Paquette D, O'Brien DP. A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria. BMC Vet Res 8:124, 2012. Pubmed: 22834903.

Penderis, J, Calvin, J, Abramson, C, Jakobs, C, Pettitt, L, Binns, MM, Verhoeven, NM, O'Driscoll, E, Platt, SR, Mellersh, CS L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. J Med Genet 44:334-40, 2007. Pubmed: 17475916.

Sanchez-Masian DF, Artuch R, Mascort J, Jakobs C, Salomons G, Zamora A, Casado M, Fernandez M, Recio A, Lujan A. L-2-hydroxyglutaric aciduria in two female Yorkshire terriers. J Am Anim Hosp Assoc 48:366-71, 2012. Pubmed: 22843824.
Neonatal Encephalopathy with Seizures (NEWS)
Neonatal Encephalopathy with Seizures (NEWS) is a severe neurological disease reported to affect standard poodles. The affected poodles suffer from ataxia, muscle weakness and show problems in nursing, which reduces their life expectancy to less than seven weeks. The inheritance model is autosomal recessive.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, Feb 2013; OMIA001471-9615

Scientific articles
Chen X, Johnson GS, Schnabel RD, Taylor JF, Johnson GC, Parker HG, Patterson EE, Katz ML, Awano T, Khan S, O'Brien DP. Neurogenetics. A neonatal encephalopathy with seizures in standard poodle dogs with a missense mutation in the canine ortholog of ATF2. 2008 Feb; 9(1):41-9. Pubmed: 18074159
Neuronal Ceroid Lipofuscinosis 1 (NCL1)
This type of neuronal ceroid lipofuscinosis affects Dachshunds. The disease is characterized by neurodegeneration that causes blindness, ataxia, spinal curvature, behavioral change and muscle weakness. The inheritance pattern is autosomal recessive.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA001504-9615

Scientific articles
Sanders DN, Farias FH, Johnson GS, Chiang V, Cook JR, O'Brien DP, Hofmann SL, Lu JY, Katz ML. A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund. Mol Genet Metab. 2010 Aug; 100(4):349-56. Pubmed: 20494602
Neuronal Ceroid Lipofuscinosis 10 (NCL10)
Neuronal ceroid lipofuscinosis type 10 is a neurodegenerative disorder described in American Bulldogs. The disease is characterized by abnormalities in locomotory coordination, paralysis of hindlegs and progressive psychomotory degeneration, which lead to an early death. The causative mutation is in the gene CTSD and the inheritance pattern is autosomal recessive.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/).
Faculty of Veterinary Science, University of Sydney; OMIA001505-9615




Scientific articles
Awano T, Katz ML, O'Brien DP, Taylor JF, Evans J, Khan S, Sohar I, Lobel P, Johnson GS. A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol Genet Metab 87:341-8, 2006. Pubmed: 16386934
Neuronal Ceroid Lipofuscinosis 2 (NCL2)
Type 2 neuronal ceroid lipofuscinosis is a neurological disorder first described in Dachshund. Symptoms start with visual impairment, and progress to severe cerebellar ataxia that reduces the lifespan to one year. The mode of inheritance is autosomal recessive.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/).
Faculty of Veterinary Science, University of Sydney; OMIA001472-9615

Scientific articles
Sanders DN, Kanazono S, Wininger FA, Whiting RE, Flournoy CA, Coates JR, Castaner LJ, O'Brien DP, Katz ML A reversal learning task detects cognitive deficits in a Dachshund model of late-infantile neuronal ceroid lipofuscinosis. Genes Brain Behav. 2011 Oct; 10(7):798-804 Pubmed: 21745338


Awano T, Katz ML, O'Brien DP, Sohar I, Lobel P, Coates JR, Khan S, Johnson GC, Giger U, Johnson GS. A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. Mol Genet Metab. 2006 Nov; 89(3):254-60. Pubmed: 16621647
Neuronal Ceroid Lipofuscinosis 6 (NCL6)
Type 6 neuronal ceroid lipofuscinosis (NCL) is a neurodegenerative disease described in Australian Shepherds. This type of NCL is caused by a mutation in the gene CLN6, and symptoms include degraded vision that progresses into blindness, and behavioral changes such as severe anxiety. Affected dogs are typically euthanized. The inheritance pattern is autosomal recessive.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/).
Faculty of Veterinary Science, University of Sydney; OMIA001443-9615


Scientific articles


Katz ML, Farias FH, Sanders DN, Zeng R, Khan S, Johnson GS, O'Brien DP A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. J Biomed Biotechnol :198042, 2011. Pubmed: 21234413
Neuronal Ceroid Lipofuscinosis, type 12, mutation originally found in Tibetan terrier
This type of adult neuronal ceroid lipofuscinosis is a neurodegenerative disease that affects Tibetan terriers. The disease is characterized by cerebellar ataxia, seizures, loss of coordination and tremors. Behavioral symptoms are cognitive decline, dementia, aggressiveness, loss of training and hypersensitivity to stimuli. The causative mutation is in the ATP13A2 gene and the inheritance pattern is autosomal recessive.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/).
Faculty of Veterinary Science, University of Sydney; OMIA001552-9615

Scientific articles
Farias FH, Zeng R, Johnson GS, Wininger FA, Taylor JF, Schnabel RD, McKay SD, Sanders DN, Lohi H, Seppälä EH, Wade CM, Lindblad-Toh K, O'Brien DP, Katz ML. A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers. Neurobiol Dis 42:468-74, 2011. Pubmed: 21362476


Wöhlke A, Philipp U, Bock P, Beineke A, Lichtner P, Meitinger T, Distl O. A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier. PLoS Genet 7:e1002304, 2011. Pubmed: 22022275


Katz ML, Narfstrom K, Johnson GS, O'Brien DP. Assessment of retinal function and characterization of lysosomal storage body accumulation in the retinas and brains of Tibetan Terriers with ceroid-lipofuscinosis. Am J Vet Res 66:67-76, 2005. Pubmed: 15691038
Polyneuropathy; mutation originally found in Alaskan Malamute
Alaskan Malamutes and Greyhounds suffer from polyneuropathy, a neurodegenerative disorder characterized by early-onset progressive dysfunction and atrophy of multiple nerve types. The disease manifests as exercise intolerance and walking difficulties that progress to paralysis. The disease follows autosomal recessive inheritance.

References

Bruun et al. Manuscript accepted for publication.

Drogemuller C, Becker D, Kessler B, Kemter E, Tetens J, Jurina K, Jaderlund KH, Flagstad A, Perloski M, Lindblad-Toh K, Matiasek K. A deletion in the N-myc downstream regulated gene 1 (NDRG1) gene in Greyhounds with polyneuropathy. PLoS One 5:e11258, 2010. Pubmed: 20582309.
Polyneuropathy; mutation originally found in Greyhound
Alaskan Malamutes and Greyhounds suffer from polyneuropathy, a neurodegenerative disorder characterized by early-onset progressive dysfunction and atrophy of multiple nerve types. The disease manifests as exercise intolerance and walking difficulties that progress to paralysis. The disease follows autosomal recessive inheritance.

References

Bruun et al. Manuscript accepted for publication.

Drogemuller C, Becker D, Kessler B, Kemter E, Tetens J, Jurina K, Jaderlund KH, Flagstad A, Perloski M, Lindblad-Toh K, Matiasek K. A deletion in the N-myc downstream regulated gene 1 (NDRG1) gene in Greyhounds with polyneuropathy. PLoS One 5:e11258, 2010. Pubmed: 20582309.
Progressive early-onset cerebellar ataxia; mutation originally found in Finnish Hound
Progressive early-onset cerebellar ataxia is a neurological disease characterized by severe deficiencies in locomotory control and coordination. This mutation was originally discovered in Finnish hound, and the disorder shows autosomal recessive inheritance. The age of onset of this ataxia ranges between 3-4 months of age, and due to its rapidly progressing nature most dogs are euthanized within a month after onset.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA001692-9615


Scientific articles
Kyöstilä K, Cizinauskas S, Seppälä EH, Suhonen E, Jeserevics J, Sukura A, Syrjä P, Lohi H. A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery. PLoS Genet. 8:e1002759, 2012; Pubmed: 22719266

Muscular disorders

Name
Description
Cavalier King Charles Spaniel Muscular Dystrophy (CKCS-MD)
Cavalier King Charles Spaniel Muscular Dystrophy is a severe X-linked disorder that causes muscle degeneration and formation of excess connective tissue. Spinal curvature and crouched posture are some of the noticeable symptoms. Due to the X-linked recessive pattern of inheritance mainly males are affected, although some female carries were suggested to suffer from muscle weakness. The disease mutation is in the dystrophin gene.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA001081-9615


Scientific articles
Walmsley GL, Arechavala-Gomeza V, Fernandez-Fuente M, Burke MM, Nagel N, Holder A, Stanley R, Chandler K, Marks SL, Muntoni F, Shelton GD, Piercy RJ. A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping. PLoS One 5:e8647, 2010. Pubmed: 20072625
Duchenne-like Muscular Dystrophy, Pembroke Welsh Corgi-type
Duchenne muscular dystrophy is a severe X-linked disorder that causes muscle degeneration and formation of excess connective tissue. Spinal curvature and crouched posture are some of the noticeable symptoms. Due to the X-linked recessive pattern of inheritance mainly males are affected, although some female carries were suggested to suffer from muscle weakness. The disease mutation is in the dystrophin gene.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/).
Faculty of Veterinary Science, University of Sydney; OMIA001081-9615


Scientific articles
Smith BF, Yue Y, Woods PR, Kornegay JN, Shin JH, Williams RR, Duan D. An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breed. Lab Invest 91:216-31, 2011. Pubmed: 20714321
Muscular Dystrophy, Duchenne type or Golden Retriever Muscular Dystrophy (GRMD)
Duchenne muscular dystrophy is a severe X-linked disorder that causes muscle degeneration and formation of excess connective tissue. A “bunny hopping” stride, spinal curvature, crouched posture and difficulties eating are some of the noticeable symptoms.

Additional details

Duchenne muscular dystrophy is a severe X-linked disorder that causes muscle degeneration and formation of excess connective tissue. A “bunny hopping” stride, spinal curvature, crouched posture and difficulties eating are some of the noticeable symptoms. Due to the X-linked recessive pattern of inheritance mainly males are affected, although some female carries were suggested to suffer from muscle weakness. The disease mutation is in the dystrophin gene.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA001081-9615

Scientific articles
Sharp NJ, Kornegay JN, Van Camp SD, Herbstreith MH, Secore SL, Kettle S, Hung WY, Constantinou CD, Dykstra MJ, Roses AD, et al. An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. Genomics. 13(1):115-121, 1992 Pubmed: 1577476
Myotonia; mutation originally found in Miniature Schnauzer
Myotonia is a muscular disorder affecting multiple breeds. Signs of myotonia are delayed muscle relaxation after exercise, and stiff movements. Myotonia follows an autosomal recessive mode of inheritance.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, Feb 2013; OMIA000698-9615

Scientific articles
Bhalerao DR, Rajpurohit Y, Vite CH, Giger U Detection of a genetic mutation for myotonia congenita among Miniature Schnauzers and identification of a common carrier ancestor. Am J Vet Res 63:1443-1447, 2002. Pubmed: 12371774

Rhodes TH, Vite CH, Giger U, Patterson DF, Fahlke C, George AL. A missense mutation in canine ClC-1 causes recessive myotonia congenita in the dog. FEBS Lett 456:54-58, 1999. Pubmed: 10452529

Vite CH, Melniczek J, Patterson D, Giger U. Congenital myotonic myopathy in the miniature schnauzer: An autosomal recessive trait. J Hered 90:578-580, 1999. Pubmed: 10544501
Myotubular Myopathy 1 or X-linked Myotubular Myopathy
This mutation causing X-linked Myotubular Myopathy was discovered in Labrador Retrievers, and it leads to muscular underdevelopment in unborn puppies. This causes severe respiratory difficulties. The disease follows an X-linked recessive mode of inheritance.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/).
Faculty of Veterinary Science, University of Sydney; OMIA001508-9615

Scientific articles
Beggs AH, Böhm J, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hitte C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, Shelton GD. MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proc Natl Acad Sci U S A 107:14697-702, 2010. Pubmed: 20682747

Cardiological disorders

Name
Description
Dilated Cardiomyopathy; mutation originally found in Doberman Pinscher (USA)
DCM is a heart disease that is a health risk in American Doberman Pinscher. Although the mutation is known to exist also in other breeds, it has not been associated with the disease in other than American Doberman populations.

Additional information

The symptoms of Dilated Cardiomyopathy (DCM) are cardiac enlargement, poor myocardial contractility, arrhytmia, which may lead to congestive heart failure and sudden cardiac death.This mutation associated with increased risk (approximately 7-fold compared to non-carriers) for DCM was discovered in American Doberman Pinschers, in which the condition followed autosomal dominant inheritance with incomplete penetrance. Please note that this mutation has not been associated with DCM in other Doberman populations or breeds! For instance, this mutation is present in European Dobermans without increasing the risk for DCM. Therefore, an affected result for this test should only be considered of relevance in Dobermans of American descent, and it may very likely mean nothing in other breeds! Please also note that this mutation is not able to explain all incidence of DCM in American Dobermans either, meaning that there are likely several other unknown genetic risk factors underlying the condition that remain to be discovered.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/).
Faculty of Veterinary Science, University of Sydney; OMIA000162-9615


Scientific articles
Meurs KM, Lahmers S, Keene BW, White SN, Oyama MA, Mauceli E, Lindblad-Toh K. A splice site mutation in a gene encoding for PDK4, a mitochondrial protein, is associated with the development of dilated cardiomyopathy in the Doberman pinscher. Hum Genet 131:1319-25, 2012. Pubmed: 22447147

Traits

Coat color

Name
Description
Colour Locus A (ASIP gene): Black and Tan, Saddle-Tan (at allele)
The ASIP gene, also known as the A locus, has four different alleles. The dominance hierarchy of the alleles is ay > aw > at > a. The ASIP gene with a SINE-insertion is called the at-allele. The tested at allele is responsible for the coat colours called black and tan and saddle-tan.

Additional information

The ASIP gene encodes for a agouti signal peptide that controls whether cells can produce eumelanin, the pigment molecule responsible for black colour, and there are thought to be four different alleles present at this loci in dogs.

The at-allele at the A locus is the genetic variant that produces black-and-tan and saddle-tan coat colour in domestic dogs. A 239 bp insertion in intron 1a of the ASIP gene on chromosome 24 is the causative mutation behind at allele.

The black and tan colour is fixed in many breeds such as Dobermann Pinchers and Rottweilers. Hallmarks of this coat colour are otherwise black or brown coat with tan points coloured either red or yellow. Tan marks appear above the eyes, on the sides of the muzzle and cheeks, on neck and chest and on distal portions of the legs.

Saddle-tan coat colour is characterized with eumelanin saddle on dog’s back, otherwise dog has phaeomelanin coat. Dog may have white chest and undersides.

Black and tan colour is a modification of the saddle-tan phenotype and it’s caused by duplication in the RALY gene. Black and tan dogs carry this duplication in homozygous state with the at allele, whereas saddle-tan dogs carry only one copy or no copies of this duplication.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, May 2013; OMIA000201-9615

Scientific articles
Dreger DL, Parker HG, Ostrander EA, Schmutz SM. Identification of a mutation that is associated with the saddle tan and black-and-tan phenotypes in Basset Hounds and Pembroke Welsh Corgis. J Hered. 104(3):399-406, 2013 Pubmed: 23519866

Dreger DL, Schmutz SM A SINE insertion causes the black-and-tan and saddle tan phenotypes in domestic dogs. J Hered. 102 Suppl 1:S11-18, 2011 Pubmed: 21846741

Schmutz SM, Berryere TG Genes affecting coat colour and pattern in domestic dogs: a review. Anim Genet. 38(6):539-549, 2007 Pubmed: 18052939
Colour Locus B (TYRP1 gene): brown, liver (bc allele)
The TYRP1 gene, also known as the B locus, encodes for tyrosinase kinase-related protein 1 that is expressed in melanin producing cells and affects the expression of dark pigment. The recessive bs, bd and bc alleles are responsible for the brown or liver colour of the coat. If a dog carries a combination of any two of the said alleles, the colour of the coat can be brown or liver.

Additional information

The colour of a dog's coat depends on the combined effects of many different genetic variants. There are three different recessive b alleles (bd, bc, and bs alleles) at the B locus and if a dog carries a combination of any two of the said alleles, the colour of the coat can be brown or liver. However, the final appearance of your dog will depend on its genetic makeup at the other colour modifying loci. Please refer to any available genetic knowledge for your dog’s specific breed to identify the colour variants of highest relevance for its appearance, and for the most accurate interpretation of the results from this test.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/)
Faculty of Veterinary Science, University of Sydney; OMIA001249-9615


Scientific articles

Schmutz SM, Berryere TG. Genes affecting coat colour and pattern in domestic dogs: a review. Anim Genet. 38(6):539-549, 2007 Pubmed: 18052939

Schmutz, Sheila M. Berryere, Tom G. Goldfinch, Angela D. TYRP1 and MC1R genotypes and their effects on coat color in dogs. Mamm Genome. 13(7):380-7, 2002.
Colour Locus B (TYRP1 gene): brown, liver (bs allele)
The TYRP1 gene, also known as the B locus, encodes for tyrosinase kinase-related protein 1 that is expressed in melanin producing cells and affects the expression of dark pigment. The recessive bs, bd and bc alleles are responsible for the brown or liver colour of the coat.

Additional information

The colour of a dog's coat depends on the combined effects of many different genetic variants. There are three different recessive b alleles (bd, bc and bs alleles) in the B locus and if a dog carries a combination of any two of the said alleles, the colour of the coat can be brown or liver. However, the final appearance of your dog will depend on its genetic makeup at the other colour modifying loci. Please refer to any available genetic knowledge for your dog’s specific breed to identify the colour variants of highest relevance for its appearance, and for the most accurate interpretation of the results from this test.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/)
Faculty of Veterinary Science, University of Sydney; OMIA001249-9615


Scientific articles

Schmutz SM, Berryere TG. Genes affecting coat colour and pattern in domestic dogs: a review. Anim Genet. 38(6):539-549, 2007 Pubmed: 18052939

Schmutz, Sheila M. Berryere, Tom G. Goldfinch, Angela D. TYRP1 and MC1R genotypes and their effects on coat color in dogs. Mamm Genome. 13(7):380-7, 2002.
Colour Locus E (MC1R gene): dark mask (EM allele)
The MC1R gene, also known as the E locus, encodes for the melanocytes stimulating hormone receptor that regulates melanin production. This tests evaluates presence of the EM allele that is responsible a dark mask pattern on a dog's face.

Additional information

The colour of a dog's coat depends on the combined effects of many different genetic variants. The E locus encodes for the receptor molecule on the membrane of the pigment cells and it reads the signals from other cells to procude different pigments. There are four different alleles at the E locus and their dominance hierarchy is EM>EG>E>e.

The EM allele is responsible for the formation of a dark mask on dog's face. The allele is dominant, meaning that carrying one copy of it is enough to produce the dark masked phenotype. However, the visibility of the mask will also depend on the dog’s genetic makeup at other colour modifying loci. Please refer to any available genetic knowledge for your dog’s specific breed to identify the colour variants of highest relevance for its appearance, and for the most accurate interpretation of the results from this test.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA001590-9615

Scientific articles
Schmutz SM, Berryere TG. Genes affecting coat colour and pattern in domestic dogs: a review. Anim Genet. 38(6):539-549, 2007 Pubmed: 18052939

Schmutz SM, Berryere TG, Ellinwood NM, Kerns JA, Barsh GS. MC1R studies in dogs with melanistic mask or brindle patterns. J Hered. 94(1):69-73, 2003 Pubmed: 12692165
Colour Locus E (MC1R gene): grizzle, domino (EG allele)

The E locus contains four different alleles and their dominance hierarchy is EM > EG > E > e. The tested EG allele affects the eumelanin/phaemelanin ratio in certain areas and is therefore responsible for the so called grizzle (in Saluki) or domino (in Afghan hounds) colouring pattern of the coat.

Additional details

The colour of a dog's coat depends on the combined effects of many different genetic variants. The MC1R gene encodes for the melanocytes stimulating hormone receptor that regulates melanin production.

The grizzle/domino coat pattern is characterized by a fair face with a darker widow's peak between the eyes. For grizzle or domino coat colour to be expressed in a dog’s appearance, it must also carry two copies of the at allele responsible for black and tan colour. Please refer to any available genetic knowledge for your dog’s specific breed to identify the colour variants of highest relevance for its appearance, and for the most accurate interpretation of the results from this test.

Colour Locus E (MC1R gene): recessive red, yellow, cream (e allele)
The MC1R gene, also known as the E locus, encodes for the melanocytes stimulating hormone receptor that regulates melanin production. A loss-of-function mutation creates the recessive e allele, which prevents the production of melanin and results in a clear red coat colour.

Additional information

The colour of a dog's coat depends on the combined effects of many different genetic variants. The MC1R gene, also known as the E locus, encodes for the receptor molecule on the membrane of the pigment cells. The receptor reads the signals frome other cells to produce different kinds of pigments.

There are four different alleles at the E-locus and their dominance hierarchy is Em > EG > E > e. The recessive e allele makes the cell produce only red pigment, phaeomelanin. The red coat colour is dominant over the other coat colours, though the intensity of the red colour depends on the dog’s genetic makeup at the other colour modifying loci. Please refer to any available genetic knowledge for your dog’s specific breed to identify the colour variants of highest relevance for its appearance, and for the most accurate interpretation of the results from this test.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/)
Faculty of Veterinary Science, University of Sydney, May 2013; OMIA001199-9615


Scientific articles

Everts RE, Rothuizen J, van Oost BA. Identification of a premature stop codon in the melanocyte-stimulating hormone receptor gene (MC1R) in Labrador and Golden retrievers with yellow coat colour. Anim Genet. 31(3):194-199, 2000 Pubmed: 10895310

Schmutz SM, Berryere TG. Genes affecting coat colour and pattern in domestic dogs: a review. Anim Genet. 38(6):539-549, 2007 Pubmed: 18052939.
Colour Locus H (PSMB7 gene): harlequin spots (H allele)
Harlequin is a coat spotting pattern that manifests as distinctive dark spots on white background colour. The harlequin coat pattern depends on two different loci: the merle locus (M locus with alleles M/m), and the harlequin (H locus with alleles H/h), where the harlequin-related gene modifies the effect of the merle gene.

Additional details

The colour and pattern of a dog's coat depends on the combined effects of many different genetic sites. In order to display the harlequin pattern a dog needs to be heterozygous (i.e., carry one copy of) for two different genetic variants – one at the M locus, and another at the H locus and have the genotype MmHh. In other words, the H allele has no visible effect without the M allele. The effect of the H allele seems to be to dilute the grey pigment areas observed between black spots in the merle colour to white. Please note that a genetic test for the merle locus is currently not included in the MyDogDNA Pass.

The harlequin pattern is most common in Great Danes, although it is also observed in merle dogs of other breeds. Please note that harlequin (Hh) x harlequin (Hh) matings are not recommended, as dogs with the HH genotype likely die during embryonic development.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, May 2013; OMIA001454-9615

Scientific articles
Clark LA, Tsai KL, Starr AN, Nowend KL, Murphy KE A missense mutation in the 20S proteasome β2 subunit of Great Danes having harlequin coat patterning. Genomics. 97(4):244-248, 2011 Pubmed: 21256207

Schmutz SM, Berryere TG. Genes affecting coat colour and pattern in domestic dogs: a review. Anim Genet. 38(6):539-549, 2007 Pubmed: 18052939
Colour Locus K (CBD103 gene)
There are three different alleles present in this locus, KB, kbr and ky allele and their dominance hierarchy is KB > kbr > ky.

Additional details

The colour of dog's coat depends on the combined effects of many different genetic variants. The CBD103 gene encodes for β-defensin that binds to MC1R (melanocytes stimulating hormone receptor) and activates eumelanin production in cells.

A three base pair deletion deletes a glycine residue from amino acid position 23 and creates the KB allele. This deletion also seems to be related to the molecular genetics of the kbr allele.

The ky allele represents wild type allele and it is not associated with any specific phenotype.

Please note that the ky-allele is expressed only if your dog is not homozygous for the a-allele at the A-locus. The final appearance of your dog will thus always depend on its genetic makeup at several colour modifying loci. Please refer to any available genetic knowledge for your dog’s specific breed to identify the colour variants of highest relevance for its appearance, and for the most accurate interpretation of the results from this test.

Colour locus A (ASIP gene): fawn, sable (ay-allele)
The ASIP gene, also known as the A locus, has four different alleles. The dominance hierarchy of the alleles is ay > aw > at > a. This test measures the presence of the ay allele, which is responsible for fawn or sable coat colour.

Additional information

The colour of dog's coat depends on the combined effects of many different genetic variants. The ASIP gene controls whether cells can produce eumelanin, the pigment molecule responsible for black colour, and there are thought to be four different alleles present at this loci in dogs. This test measures the ay allele of the ASIP gene - a dominant allele responsible for yellow-tan, fawn or sable colour of the coat. However, the final appearance of your dog will depend on its genetic makeup at the other colour modifying loci. Please refer to any available genetic knowledge for your dog's specific breed to identify the colour variants of highest relevance for its appearance, and for the most accurate interpretation of the results from this test.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, May 2013; OMIA000201-9615

Scientific articles
Schmutz SM, Berryere TG. Genes affecting coat colour and pattern in domestic dogs: a review. Anim Genet. 38(6):539-549, 2007 Pubmed: 18052939

Berryere TG, Kerns JA, Barsh GS, Schmutz SM. Association of an Agouti allele with fawn or sable coat color in domestic dogs. Mamm Genome. 16(4):262-72, 2005. Pubmed: 15965787

Morphology

Name
Description
Body mass, insulin-like growth factor 1 (IGF1) gene variant
Dogs show greater variation in body size than any other land-living vertebrate species. One gene implicated in determining size is the insulin-like growth factor 1 gene (IGF1). We test a genetic variant (CanFam2.0 chr15:44228468) in the IGF1 locus that is strongly correlated with breed average mass.

Description

This trait is influenced by both genetic and environmental factors, and studies aiming to explain the genetic basis of size variation are ongoing. In general, the A (adenine) allele of this single nucleotide polymorphism (SNP) is more frequent in small breeds, while the G (guanine) allele is more common in large breeds. Please note that there are exceptions to this generally observed pattern. Accurate prediction of body size based on a single genetic variant, or without consideration of potential environmental effects, is not possible.

References

Scientific articles
Sutter NB, Bustamante CD, Chase K, Gray MM, Zhao K, Zhu L, Padhukasahasram B, Karlins E, Davis S, Jones PG, Quignon P, Johnson GS, Parker HG, Fretwell N, Mosher DS, Lawler DF, Satyaraj E, Nordborg M, Lark KG, Wayne RK, Ostrander EA. A single IGF1 allele is a major determinant of small size in dogs. Science. 6;316(5821):112-115, 2007. Pubmed: 17412960.
Ear erectness (pricked ears versus floppy ears), variant chr10:11072007
Dog breeds show great diversity in ear morphology, ranging from pricked, erect ears to floppy, dropped ears. Canine genetics research has revealed genetic variants that are statistically correlated with the ear phenotype. This test explores a single nucleotide polymorphism (SNP) on chromosome 10 (CanFam2.0 chr10:11072007) that has been associated with the ear type.

Additional details

Dog breeds show great diversity in ear morphology, ranging from pricked, erect ears to floppy, dropped ears. No gene test for ear type is available, but canine genetics research has already revealed genetic variants that are statistically correlated with the ear phenotype. This test explores a single nucleotide polymorphism (SNP) on chromosome 10 (CanFam2.0 chr10:11072007) that has been associated with ear type in a genome-wide association study examining 12 breeds with pricked ears and 15 breeds with dropped ears.

The variation in ear morphology is likely controlled by the combined effects of multiple genetic variants. An as of yet undiscovered causal mutation or variant may reside somewhere in the vicinity of the tested variant that is showing the statistical correlation. The C (cytosine) allele of this SNP is more frequent in dog breeds with dropped, floppy ears, whereas the T (thymine) allele is more frequent in breeds with erect, pricked ears. Please note that there are exceptions to this generally observed pattern, and that your dog’s final appearance will depend on the joint effect of many genetic factors that influence ear type.

References

Scientific articles
Vaysse A, Ratnakumar A, Derrien T, Axelsson E, Rosengren Pielberg G, Sigurdsson S, Fall T, Seppälä EH, Hansen MST, Lawley CT, Karlsson EK, The Lupa Consortium, Bannasch D, Vilà C, Lohi H, Galibert F, Fredholm M, Häggström J, Hedhammar Å, André C, Lindblad-Toh, Hitte C, Webster MT. Identification of Genomic Regions Associated with Phenotypic Variation between Dog Breeds using Selection Mapping. PLoS Genet 7(10): e1002316, 2011. Pubmed: 22022279.
Natural Bobtail (T-box mutation)
The tested genetic variant is associated with tail morphology or more specifically short tail length (bobtail). The mutation resides in the T gene, and it was first associated with the short tail phenotype in Pembroke Welsh Corgis.

Lähteet

The tested genetic variant is associated with tail morphology or more specifically short tail length (bobtail). The mutation resides in the T gene, and it was first associated with the short tail phenotype in Pembroke Welsh Corgis. The bobtail phenotype is dominantly inherited, meaning that natural bobtails carry one copy of the bobtail allele and one copy of the allele associated with normal tail length. Dogs homozygous for the bobtail allele die before birth, and therefore breeding of two bobtails is not recommended. However, this mutation does not explain the short-tailed phenotype in all individuals, indicating that there are other genetic factors that influence tail length as well.

References

Scientific articles
Hytönen MK, Grall A, Hédan B, Dréano S, Seguin SJ, Delattre D, Thomas A, Galibert F, Paulin L, Lohi H, Sainio K, André C Ancestral T-box mutation is present in many, but not all, short-tailed dog breeds. J Hered. 100(2):236-240 2009 Pubmed: 18854372
Snout/skull length (shortened head versus elongated head), bone morphogenetic protein 3 (BMP3) gene variant
The tested BMP3 gene is affecting the elongation of the head. Homozygous individuals tend to belong to one of the extremes (very short or very long skull). Please note, that also other unknown loci affects the final shape of the skull.

Additional details

Variation in the shape of the skull of dogs is created by breeding and is under the influence of many genes. The shape of the skull is usually breed defining and there are three main types: Brachycepahly or shortened head is defining in pug and boxer, the ancestral type that is present in wolf and Dolichochepahly or elnognated head that is defining in Afghan hound. BMP3 is a gene that has been strongly associated with the elongation of the skull. Particularly a mutation changing a phenylalanine residue to leucine at the position 452, changes the chemical properties of the protein. A dog homozygous for the allele associated with either elongated or shortened skull and will most likely express the phenotype characteristic to the said allele. Keep in mind that this is not the only variant that makes up the final shape of the skull and that there are other genes affecting this phenotype.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney; OMIA 001371-9615

Scientific articles
Abramson CJ, Platt SR, Jakobs C, Verhoeven NM, Dennis R, Garosi L, Shelton GD. L-2-Hydroxyglutaric aciduria in Staffordshire Bull Terriers. J Vet Intern Med 17:551-6, 2003. Pubmed: 12892307.

Farias FH, Zeng R, Johnson GS, Shelton GD, Paquette D, O'Brien DP. A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria. BMC Vet Res 8:124, 2012. Pubmed: 22834903.

Penderis, J, Calvin, J, Abramson, C, Jakobs, C, Pettitt, L, Binns, MM, Verhoeven, NM, O'Driscoll, E, Platt, SR, Mellersh, CS L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. J Med Genet 44:334-40, 2007. Pubmed: 17475916.

Sanchez-Masian DF, Artuch R, Mascort J, Jakobs C, Salomons G, Zamora A, Casado M, Fernandez M, Recio A, Lujan A. L-2-hydroxyglutaric aciduria in two female Yorkshire terriers. J Am Anim Hosp Assoc 48:366-71, 2012. Pubmed: 22843824.
Tiny size, insulin-like growth factor 1 receptor (IGF1R) gene variant
IGF1R is one of the genes known to affect the size of the dog. With this test we are able to detect a variant of this gene (CanFam2.0 chr3:44706389) that changes the amino acid sequence of the encoded protein. This variant has been associated with very small size (height at the withers < 25.4 cm (10 in)) in a genome-wide study.

Additional details

Dogs show greater variation in body size than any other land-living vertebrate species. This trait is influenced by both genetic and environmental factors, and studies aiming to explain the genetic basis of size variation are ongoing. One gene implicated in determining size is the insulin-like growth factor 1 receptor (IGF1R). We test a genetic variant (CanFam2.0 chr3:44706389) that causes an amino acid change (G>A; Arg204His) in the protein encoded by the gene. This variant was identified as associated with tiny size (height at the withers < 25.4 cm (10 in)) in a genome-wide association study examining 915 dogs of different breeds. At least one copy of the A-allele was present in 9 of 13 breeds defined as tiny. Moreover, in breed groups where there is variation in size (e.g., Dachshunds and Poodles), the trend is that the smaller the dog variety (from Standard size down to Miniature or Toy size) the higher the frequency of the A-allele. Please note that accurate prediction of body size based on a single genetic variant, or without consideration of potential environmental effects, is not possible.

References

Scientific articles
Hoopes BC, Rimbault M, Liebers D, Ostrander EA, Sutter NB. The insulin-like growth factor 1 receptor (IGF1R) contributes to reduced size in dogs. Mamm Genome. 23(11-12):780-790, 2012. Pubmed: 22903739

Coat type

Name
Description
Coat Furnishings (moustache and eyebrows) / Improper Coat in Portuguese Water Dogs, variant chr13:11659792
This single nucleotide polymorphism (SNP) on chromosome 13 (CanFam2 chr13:11659792) is strongly associated (P=10^-241) with the furnishings phenotype, providing an indirect measurement of presence of the trait. However, please note that furnishings in some breeds may not comply with this generally observed pattern.
The association was discovered by a genome wide association study (GWAS) on 225 dogs from 19 breeds with furnishings and 650 dogs from 58 breeds without furnishings. Since the furnishings trait is a dominant feature, dogs with at least one copy of the T-allele of this SNP are very likely to have furnishings. Dogs with two copies of the C-allele of this variant are very likely to express a wild type phenotype, meaning the absence of furnishings. In Portuguese Water Dogs this phenotype is known as improper coat.

References


Scientific articles
Cadieu E, Neff MW, Quignon P, Walsh K, Chase K, Parker HG, Vonholdt BM, Rhue A, Boyko A, Byers A, Wong A, Mosher DS, Elkahloun AG, Spady TC, André C, Lark KG, Cargill M, Bustamante CD, Wayne RK, Ostrander EA. Coat variation in the domestic dog is governed by variants in three genes. Science 326(5949):150-153 2009. Pubmed: 19713490

Parker HG, Chase K, Cadieu E, Lark KG, Ostrander EA. An insertion in the RSPO2 gene correlates with improper coat in the Portuguese Water Dog. J Hered 101(5):612-617 2010. Pubmed: 20562213.
Coat Furnishings (moustache and eyebrows) / Improper Coat in Portuguese Water Dogs, variant chr13:11676852
This single nucleotide polymorphism (SNP) on chromosome 13 (CanFam2 chr13:11676852) is strongly associated (P=2.15x10^-115) with the furnishings phenotype, providing an indirect measurement of presence of the trait. However, please note that furnishings in some breeds may not comply with this generally observed pattern.

Description

The association was discovered by fine mapping of an implicated genomic region in 177 dogs from 30 breeds with furnishings, and in 176 dogs from 21 breeds without furnishings. Since the furnishings trait is a dominant feature, dogs with at least one copy of the A-allele of this SNP are very likely to have furnishings. Dogs with two copies of the G-allele of this variant are very likely to express a wild type phenotype, meaning the absence of furnishings. In Portuguese Water Dogs this phenotype is known as improper coat.

References


Scientific articles
Cadieu E, Neff MW, Quignon P, Walsh K, Chase K, Parker HG, Vonholdt BM, Rhue A, Boyko A, Byers A, Wong A, Mosher DS, Elkahloun AG, Spady TC, André C, Lark KG, Cargill M, Bustamante CD, Wayne RK, Ostrander EA. Coat variation in the domestic dog is governed by variants in three genes. Science 326(5949):150-153 2009. Pubmed: 19713490

Parker HG, Chase K, Cadieu E, Lark KG, Ostrander EA. An insertion in the RSPO2 gene correlates with improper coat in the Portuguese Water Dog. J Hered 101(5):612-617 2010. Pubmed: 20562213.
Coat length / "Fluffy" in Welsh Corgi
Coat hair length is a genetically determined trait in dogs. This test measures a genetic variant (Cys95Phe) in the FGF5 gene that is strongly associated with the observed length of the coat.

Additional information

Coat hair length is a genetically determined trait in dogs. This test measures a genetic variant (Cys95Phe) in the FGF5 gene that is strongly associated with the observed length of the coat. The effect of this variant shows autosomal recessive inheritance, where longhaired appearance (T/T genotype) is the recessive phenotype. Heterozygous dogs (G/T genotype, carrying one copy of the short-haired allele, and one copy of the long-haired allele) typically appear shorthaired, but pass on both alleles to their offspring in a 1:1 ratio. Please note that the tested variant explains a majority, but not all variation in coat length. This indicates that there are also other variants that partially influence coat length, e.g. in Afghan Hounds, Yorkshire Terriers, and Silky Terriers. Moreover, please note that your dog’s final coat appearance will also depend on other genetic variants, such as the ones determining curly vs. non-curly coat, and presence of furnishings (moustaches and eyebrows).

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, May 2013; OMIA000439-9615

Scientific articles
Cadieu E, Neff MW, Quignon P, Walsh K, Chase K, Parker HG, Vonholdt BM, Rhue A, Boyko A, Byers A, Wong A, Mosher DS, Elkahloun AG, Spady TC, André C, Lark KG, Cargill M, Bustamante CD, Wayne RK, Ostrander EA Coat variation in the domestic dog is governed by variants in three genes. Science. 326(5949):150-153 2009 Pubmed: 19713490
Curly coat
The tested genetic variant in the KRT71 gene determines whether a dog will have a curly or non-curly type of coat. Your dog's final coat appearance will also depend on other genetic variants, such as FGF5 (coat length) and RSPO2 (moustaches and eyebrows).

Description

The tested genetic variant in the KRT71 gene determines whether a dog will have a curly or non-curly type of coat. Your dog's final coat appearance will also depend on other genetic variants, such as FGF5 (coat length) and RSPO2 (moustaches and eyebrows). The curly trait is inherited in an autosomal dominant manner, meaning that dogs carrying either one (heterozygotes) or two copies (homozygotes) of the allele associated with curly coat have a curly-coated appearance. Note that heterozygotes will pass on the non-curly allele to about half of their offspring. Please note that your dog needs two copies of the genetic variant associated with long coat type of the FGF5 gene to express curly coat.

References

Online database
Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney, May 2013; OMIA000245-9615

Scientific articles
Cadieu E, Neff MW, Quignon P, Walsh K, Chase K, Parker HG, Vonholdt BM, Rhue A, Boyko A, Byers A, Wong A, Mosher DS, Elkahloun AG, Spady TC, André C, Lark KG, Cargill M, Bustamante CD, Wayne RK, Ostrander EA Coat variation in the domestic dog is governed by variants in three genes. Science. 326(5949):150-153 2009 Pubmed: 19713490

Genetic Diversity and Relationships

Genetic diversity

MyDogDNA Pass measures the dog’s genetic diversity by screening thousands of sites in its DNA. Genetic diversity represents the heterozygosity level within breed or breed group. Each tested dog updates the view of the breed’s genetic diversity.

Genetic relationships

The graph shows how similar, or different, the genomes of dogs within this breed or breed group are. Each tested dog is represented by a dot in the graph.