OMIA 000155-10141 : C3 deficiency in Cavia porcellus

In other species: dog , rabbit

Possibly relevant human trait(s) and/or gene(s) (MIM number): 613779

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