Search results for: 'DOG-PRA-PRCD'

The B (brown) locus refers to a mutation in the TYRP1 gene causing the brown colour of the coat, also called liver or chocolate. The black (B) allele is dominant over the brown alleles (bs, bd, bc). For red or yellow dogs, the brown allele will not change the colour of the coat, but will change the colour of the nose and the pads of the paws. Other mutations can cause brown coat colour in the Australian Shepherd (DOG-LOCUS-B-BGAUST) and Lancashire Heeler (DOG-LOCUS-B-LHEELER). This test does not detect the mutation for chocolate (DOG-COCOA) in French Bulldogs.

The mutation responsible for the cocoa colour in the French bulldog has been identified in the Hermansky-Pudlak syndrome 3 (HPS3) gene. Dogs homozygous for this mutation are a shade darker brown than dogs mutated for brown (Locus B).  In humans and mice, mutations in the HPS3 gene are associated with symptoms such as visual impairment, abnormal eye pigmentation and bleeding. These effects of the mutation have not been reported in dogs homozygous for the cocoa variant. ogs with two copies of the cocoa variant can be cocoa, however the final colour of the dog also depends on other genes controlling coat colour.  

Prekallikrein (PK) deficiency in dogs is a hereditary coagulation disorder characterized by a prolonged activated partial thromboplastin time (aPTT). Most affected dogs remain asymptomatic and do not show spontaneous bleeding in the absence of other coagulation abnormalities. In rare cases, hemorrhagic signs such as gastrointestinal bleeding, hematuria, or prolonged healing time after surgery may occur.

This test is also recommended for Maltese dogs as part of the breeding program of the Flemish government (see the official program).

Skeletal Dysplasia 2 (SD2) is a genetic disorder causing mild disproportionate dwarfism. Affected dogs have short legs with normal proportions for the rest of the body. This mutation has incomplete penetrance: not all dogs with two copies of the defective gene will show signs of skeletal dysplasia.

Laryngeal paralysis and polyneuropathy (LPPN3) is a disease characterised by breathing difficulties, often described as noisy or hoarse breathing. Other clinical signs, which vary from dog to dog, include difficulty swallowing, changes in frequency and quality of barking, high gait, lack of muscle coordination, exercise intolerance and muscle atrophy of the limbs.

Dwarfism is a slowing of growth. Pituitary dwarfism in German Shepherds produces perfectly proportioned but much smaller dogs. It is caused by a dysfunction of the pituitary gland which reduces the plasma concentrations of growth and thyroid hormones. This hormonal alteration usually results in malformations of the genitalia. These dogs can lead a normal life if they receive appropriate hormonal treatment.

Spinocerebellar ataxia (LOA) is a genetic disease of the nervous system. Affected dogs present the first signs of ataxia around the age of 6 to 12 months. The symptoms of this pathology are a loss of balance, a progressive lack of coordination until the total loss of mobility. nother test for spinocerebellar ataxia is available. For more information, consult the DOG-SCA test.

The E locus or extension refers to a mutation in the MC1R gene. For this test code, the mutation tested is the e^3 mutation. In the husky, dogs with two copies of the e^1 or e^3 alleles will have a white coat. For the e^1 allele and other breeds, see the following link:  DOG-LOCUS-E.

Spinocerebellar ataxia (SCA or SAMS) is a genetic disease of the nervous system. Affected dogs present the first signs of ataxia around the age of 3 to 6 months. The symptoms of this pathology are a loss of balance, a progressive lack of coordination until the total loss of mobility. Another test for late-onset spinocerebellar ataxia is available. For more information, consult the DOG-LOA test.

Muscle hypertrophy in whippets, sometimes called “bully,” is a genetic trait that results in a highly developed musculature, particularly in the neck and limbs.
Affected dogs have a broad chest and generally do not conform to the breed standard, which favors a slim body, long neck, and pointed muzzle.
Whippets carrying a single copy of the mutation show moderate muscular development but are often faster than dogs homozygous for the normal allele, providing a performance advantage.