Complement 3 (C3) Deficiency

Gene: C3

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.

Medical system: Blood

Mutation: Deletion, C3 gene; c.2136 del, p.(F712L fs STOP 11)

Breeds: American Staffordshire Terrier/Amstaff, Brittany, Labrador Retriever, Maltese Terrier

References:

OMIA link: [0155-9615]

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]

Ameratunga R, Winkelstein JA, Brody L, et al. (1998) Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency. J Immunol 160:2824-30.  [pubmed/9510185]