Canine Multiple Systems Degeneration (CMSD)

Gene: SERAC1

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.

Mutations:

Type Chinese Crested: Substitution, SERAC1 gene; c.1536 G>A ; p.(Trp512 STOP)

Type Kerry Blue Heeler: Deletion, SERAC1 gene: c.182+1_182+4 del. (splicing error)

Medical system: Nervous

Races: Chinese Crested, Kerry Blue Terrier

References:

OMIA link: [1468-9615]

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]

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]

Guo J, Zeng R, Johnson GS, et al. (2013) Canine multiple system degeneration is associated with distinct SERAC1 mutations in two different dog breeds. Proceedings of the 63rd Annual Meeting of the American Society of Human Genetics; October 22-26, 2013; Boston, USA.