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Ataxia (Norwegian Buhund Type)

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Test Overview:

Do not breed affected dogs homozygous for the KCNIP4 mutation to prevent producing affected puppies. Avoid mating two carriers, as there is a 25% chance per litter of affected offspring. Breed carriers only to clear (non-carrier) dogs; some offspring may be carriers but none will be affected. Routine genetic testing of breeding stock in Norwegian Buhunds is strongly recommended to reduce allele frequency and eventually eliminate the disease from the breed. Breed clubs and veterinary geneticists support using the DNA test for responsible breeding programs.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

KCNIP4

Variant Detected:

chr3:88890674: T/C

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Jenkins CA, Kalmar L, Matiasek K, Mari L, Kyosila K, Lohi H, Schofield EC, Mellersh CS, De Risio L, Ricketts SL. Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole genome sequencing two affected Norwegian Buhund dogs. Mamm Genome. 2015 Feb;26(1-2):108-17. doi: 10.1007/s00335-014-9547-6. Epub 2014 Oct 30. [PubMed: 31999692]

Associated Breed(s):

Mixed Breed,
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