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Complement 3 Deficiency

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Test Overview:

Genetic screening for the known C3 gene frameshift mutation in breeding stock. Do not breed two carriers to prevent affected offspring (which require two copies of the mutation). Breed carriers only to clear (non-carrier) dogs. Avoid breeding affected dogs. Use testing results to gradually reduce the mutation frequency while maintaining genetic diversity.

Category:

Immunologic - Associated with the organs and cells of the immune system

Gene:

C3

Variant Detected:

chr20:53573746 (canFam3): 1 bp deletion (del C)

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the C3 gene will reliably determine if a dog is a genetic carrier of complement 3 deficiency.

Research Citation(s):

Ameratunga R, Winkelstein JA, Brody L, Binns M, Cork LC, Colombani P, Valle D. Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency. Journal of Immunology. 1998; 160: 2824-2830. [not in PubMed] Cork LC, Morris JM, Olson JL, Krakowka S, Swift AJ, Winkelstein JA. Membranoproliferative glomerulonephritis in dogs with a genetically determined deficiency of the third component of complement. Clin Immunol Immunopathol. 1991 Sep; 60(3):455-70. [PubMed: 1864020] Johnson JP, McLean RH, Cork LC, Winkelstein JA. Genetic analysis of an inherited deficiency of the third component of complement in Brittany spaniel dogs. Am J Med Genet. 1986 Nov; 25(3):557-62. [PubMed: 3789016]

Associated Breed(s):

Brittany Spaniel , Mixed Breed,

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