OMIA:000155-9986 : C3 deficiency in Oryctolagus cuniculus
In other species: dog , domestic guinea pig
Categories: Immune system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613779 (trait) , 120700 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: no
Cross-species summary: Complement component 3 consists of two chains, alpha and beta, linked covalently by disulphide bonds. In humans and mice (and therefore presumably in all mammals), the two chains are encoded by a single gene (the C3 gene).
Species-specific symbol: C3D
Species-specific description: C3 deficiency was discovered in a line of rabbits undergoing selection for high and low total complement haemolytic activity (Komatsu, 1985). Preliminary molecular studies by Komatsu (1992) showed that the mutant allele produces only very low levels of C3 mRNA, suggesting a mutation in a control region of the gene. Sequencing is now underway to determine the exact molecular defect.
Clinical features: 10% of normal C3 serum levels; low survival rate; reduced serum bactericidal activity; suppressed delayed-type hypersensitivity
Genetic testing: Using a 1.6 kb fragment of rabbit C2 cDNA as a probe in Southern analysis, the three genotypes at this locus can be detected with either BglII, StuI, or SacI (Komatsu, 1992).
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|1992||Komatsu, M. :|
|Molecular Biology for Genetic Deficiencies of Complement Components in Rabbits - C8alpha-gamma Deficiency and C3- Hypocomplementemia JARQ - Japan Agricultural Research Quarterly 26:48-54, 1992.|
|1988||Komatsu, M., Yamamoto, K., Nakano, Y., Nakazawa, M., Ozawa, A., Mikami, H., Tomita, M., Migita, S. :|
|Hereditary C3 hypocomplementemia in the rabbit Immunology 64:363-368, 1988. Pubmed reference: 3410489 .|
- Created by Frank Nicholas on 16 Jul 2005