Severe Combined Immunodeficiency

Gene: RAG1

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, RAG1 gene ; c.2893 G>T , p.(E965 STOP)

Medical system: Immunological

Breeds:  Frisian Water Dog

References:

OMIA link: [1574-9615]

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]

Verfuurden B, Wempe F, Reinink P, et al. (2011) Severe combined immunodeficiency in Frisian Water Dogs caused by a RAG1 mutation. Genes Immun 12:310-3.  [pubmed/21293384]