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

Poodle - Miniature - Black, brown and white

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.

Metabolic disorders

Name
Description
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.

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.

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.

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.
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.
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.
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.
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.
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.
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.

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.
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.
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.

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.
Myotubular Myopathy 1 or X-linked Myotubular Myopathy
This mutation causing X-linked Myotubular Myopathy was discovered in Labrador Retrievers. It leads to muscular wasting away, manifesting as early-onset pelvic limb weakness progressing into inability to move. The disease follows an X-linked recessive mode of inheritance.

Blood disorders

Name
Description
Bleeding disorder due to P2RY12 defect
This bleeding disorder due to a defect in the P2RY12 receptor protein was described in Greater Swiss Mountain Dogs. Affected dogs suffer from excessive and prolonged bleeding after a trauma or a surgery. The mode of inheritance of the disorder is autosomal recessive.
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.
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 mutation found in mixed breeds, and another mutation discovered in the Lhasa Apso breed.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Pyruvate Kinase Deficiency of Erythrocyte; mutation originally found in West Highland White Terrier
Pyruvate kinase deficiency is an autosomal recessively inherited metabolic disorder affecting the function of red blood cells. This leads to anemia and weakness, and ultimately bone marrow and liver failure. Several different mutations in the same gene (PKLR) have been found to cause the disorder.
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.

Endocrine disorders

Name
Description
Congenital 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. 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.
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.

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.
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.
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.

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 (e.g., uterus) developing 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 females.
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.

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.
Polycystic Kidney Disease (PKD)
BTPDK is a kidney disease affecting English Bull Terriers. Affected dogs develop bilateral kidney cysts, which ultimately results in renal failure. BTPDK is caused by a mutation in the PKD1 gene and it is inherited in an autosomal dominant manner.
Primary hyperoxaluria (PH); mutation originally found in Coton de Tulear
Primary Hyperoxaluria (PH) is a metabolic kidney 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.
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.

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.
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.
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.
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.
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.
Cone-rod Dystrophy (cord1-PRA / crd4)
Cone-rod dystrophy 1 (cord1), also known as crd4, 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.
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.
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.
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.
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.
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.
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 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.
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.
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.
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.

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).
C3 deficiency
C3 deficiency is an immunological condition that makes the affected dog 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.
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.
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.

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.
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.
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.
Musladin-Lueke syndrome (MLS)
Musladin-Lueke Syndrome (MLS) is a disorder causing skin and joint problems, and abnormal facial features in Beagles. 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 as an autosomal recessive disorder.

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.
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.
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.

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.
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.
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.
Hypocatalasia or Acatalasemia
Hypocatalasia, a deficiency of catalase enzyme activity in red blood cells, was studied in Beagles as it resembles a human condition called Takaharas’ disease. In this disease, especially the oral cavity is damaged due to progressive gangrene. An autosomal recessive mode of inheritance was suggested for this phenotype. Carriers may potentially show some degree of symptoms
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.
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.
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.

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.
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.
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.
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 in standing, and deficiencies in blood oxygenation are other symptoms of this disorder that typically progresses to such severity that euthanasia is required. The mode of inheritance is autosomal recessive.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.

Cardiological disorders

Name
Description
Dilated Cardiomyopathy; mutation originally found in Doberman Pinscher (USA)
DCM (dilated cardiomyopathy) is a cardiological disorder reported in several breeds. The genetic variant tested here is a risk factor for the condition and it was originally found in American Doberman Pinschers. Although the mutation is well known to exist also in other breeds, it has not been associated with the disease in other than American Doberman populations. It even has no confirmed effect in European Dobermans. Therefore, we emphasize that an "affected" result for this test is of no concern if the tested dog is of a breed or origin other than American Doberman.

Additional information

The symptoms of Dilated Cardiomyopathy (DCM) are cardiac enlargement, poor myocardial contractility, arrhythmia, 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.

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.

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.

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.
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.
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.

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.

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.

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.

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.
Coat Furnishings (moustache and eyebrows) / Improper Coat in Portuguese Water Dogs, variant chr13:11676852
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.
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).

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.

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.

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.

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.

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.

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.

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.