OMIA:000155-10141 : C3 deficiency in Cavia porcellus |
In other species: dog , rabbit
Categories: Immune system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613779 (trait) , 120700 (gene)
Links to MONDO diseases:
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).
Molecular basis: Despite the title of their paper, Auerbach et al. (1990) did not report the molecular basis of C3 deficiency in guinea pigs.
References
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.
| 1994 | Singer, L., Colten, H.R., Wetsel, R.A. : |
| Complement C3 deficiency: human, animal, and experimental models. Pathobiology 62:14-28, 1994. Pubmed reference: 8031472 . | |
| 1993 | Botto, M., Walport, M.J. : |
| Hereditary deficiency of C3 in animals and humans. Int Rev Immunol 10:37-50, 1993. Pubmed reference: 8340676 . | |
| 1990 | Auerbach, H.S., Burger, R., Dodds, A., Colten, H.R. : |
| Molecular basis of complement C3 deficiency in guinea pigs. J Clin Invest 86:96-106, 1990. Pubmed reference: 1973176 . DOI: 10.1172/JCI114721. | |
| 1986 | Burger, R., Gordon, J., Stevenson, G., Ramadori, G., Zanker, B., Hadding, U., Bitter-Suermann, D. : |
| An inherited deficiency of the third component of complement, C3, in guinea pigs. Eur J Immunol 16:7-11, 1986. Pubmed reference: 3512275 . DOI: 10.1002/eji.1830160103. |
Edit History
- Created by Frank Nicholas on 11 Oct 2011
- Changed by Frank Nicholas on 31 Mar 2020