Ataxia, cerebellar

Gene: KCNIP4

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, KCNIP4 gene; c.436 T>C, p.(T146R)

Medical system: nervous

Breeds: Norwegian Buhund

References:

OMIA link: [2240-9615]

Stee K, Van Poucke M, Lowrie M, et al. (2023) Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med. [pubmed/37341581]

Jenkins CA, Kalmar L, Matiasek K, et al. (2020) Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs. PLoS Genet 16:e1008527.  [pubmed/31999692]