Search results for: 'DOG-PRA-PRCD'

Locus Em or melanin mask causes the black mask on the dog's face. This allele is dominant because only one copy is needed to express the mask phenotype. The mask can be tested for in any breed, but is most commonly found in the breeds listed below.

Myotubular myopathy type 1, also known as X-linked myotubular myopathy, is a genetic disease of the skeletal muscles. Clinical signs include hypotonia, muscle atrophy and breathing difficulties. The disease is transmitted in an X-linked recessive manner, so males carrying the mutation will all be affected. However, only females with 2 copies of the mutated allele will be affected.

Amelogenesis imperfecta (AI) is a genetic disorder affecting tooth enamel, causing it to be thin, brittle, or poorly mineralized. In Akitas, a recessive variant in the ACP4 gene has been identified, leading to hypoplastic AI due to an abnormal protein structure. The carrier frequency in Akitas is 22%. While AI cannot be cured, genetic testing can help manage breeding programs and improve dental care strategies.

Severe early-onset epilepsy also known as Juvenile Brain DIsease is an extremely serious inherited neurological disorder.
Affected puppies develop normally during the first weeks of life, but around 6 to 12 weeks of age, they rapidly experience severe convulsive seizures that can progress to status epilepticus, often fatal or requiring euthanasia.
Post-mortem examinations reveal that the lesions are concentrated in the brain, with extensive necrosis of the neurons in the grey matter.

Globoid cell leukodystrophy, also known as Krabbe's disease, is a disorder of lipid storage in the central nervous system leading to progressive neurological degeneration. The first symptoms are ataxia and paresis of the hind legs occurring between 1 and 3 months of age, after which muscle atrophy is observed. Affected animals are usually euthanised due to lack of treatment.

Globoid cell leukodystrophy, also known as Krabbe's disease, is a disorder of lipid storage in the central nervous system leading to progressive neurological degeneration. The first symptoms are ataxia and paresis of the hind legs occurring between 1 and 3 months of age, after which muscle atrophy is observed. Affected animals are usually euthanised due to lack of treatment.

Haemophilia B, also known as factor IX deficiency, is a bleeding disorder. The clinical signs are haematomas and excessive bleeding due to the absence of functional coagulation factor IX.  he disease is transmitted in an X-linked recessive manner, so males carrying the mutation will all be affected. However, only females with 2 copies of the mutated allele will be affected.

The A locus or agouti gene affects the colour of the dog's coat. There are 4 variants of the A locus: Ay (tan or sand), Aw (wolf grey or wolf sand), at (black and tan) and a (black recessive). The colour of the dog's coat is the result of the interaction of different genes including the A, B, E and K loci.

Juvenile laryngeal paralysis and polyneuropathy also known as polyneuropathy with ocular abnormalities and neuronal vacuolation (POANV) is a neurological defect seen in Black Russian Terriers and Rottweilers where the disease is known as neuronal vacuolation and neuronal vacuolation and spinocerebellar degeneration (NVSD). Signs of disease include early onset of laryngeal paralysis, microphthalmia (small eyes), cataract and muscle weakness. The disease is progressive and affected animals die or are euthanised

Lethal acrodermatitis is a genetic disease of the immune system. The clinical signs are skin lesions on the paws and muzzle, leading to secondary infections. In addition, the lesions cause hyperkeratosis of the pads and deformation of the nails. Affected puppies also suffer from diarrhea, bronchopneumonia and retarded growth. The first symptoms appear quickly after birth. Affected puppies usually die before 2 years of age or are euthanized.