Search results for: 'DOG-PRA-PRCD'

Congenital deafness in Rottweilers is a genetic disorder causing bilateral hearing loss from the first weeks of life. Affected puppies show profound deafness, without other apparent clinical signs.

This condition is associated with a mutation in the LOXHD1 gene, which plays a key role in the function of the cochlear hair cells.

Locus I determines a dilution of the pheomelanin pigments (red or yellow pigment), resulting in a dilution of the fawn coat to cream, sand or white depending on the breed. The mutation does not affect the eumelanin pigments and therefore has no impact on the black or brown coat.

X-linked hypohidrotic ectodermal dysplasia is a disease characterised by missing or malformed teeth and absent sweat glands. 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.

Neuronal ceroid lipofuscinosis is a genetic disease with symptoms including behavioural changes, cognitive decline, cerebellar ataxia, dementia, seizures, nervousness, aggression, hypersensitivity to stimuli, loss of coordination, tremors, retinal degeneration, moderate visual impairment in low light, but good visual acuity in bright light. The first behavioural signs usually appear around the age of 4 to 6 years.

Neonatal encephalopathy is a malformation of the cerebellum seen in poodles. Affected puppies are small at birth and do not develop normally. At the age of about 3 weeks, weakness, ataxia, tremors are observed. Affected puppies do not interact with the mother or other members of the litter and react slowly to external stimuli. They usually die or are euthanised before 7 weeks of age.

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.

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.