Hypomyelinisation (HYM) 

Gene: FNIP2

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: Deletion, FNIP2 gene; c.880 del.A, p.(I360L fs STOP 3), exon9

Medical system: Neurological

Breeds : Labrador Retriever, Weimaraner

References :

OMIA link: [0526-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Pemberton TJ, Choi S, Mayer JA, et al. (2014) A mutation in the canine gene encoding Folliculin-interacting protein 2 (FNIP2) associated with a unique disruption in spinal cord myelination. Glia 62:39-51. [pubmed/24272703]