OMIA:000155-9615 : C3 deficiency in Canis lupus familiaris (dog) |
In other species: rabbit , domestic guinea pig
Categories: Immune system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 613779 (trait) , 120700 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 1998
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 description: Deficiency of the third component of complement results in susceptibility to a range of bacterial infections and to type 1 membranoproliferative glomerulonephritis.
Molecular basis: The first report of the molecular basis of this disorder was by Ameratunga et al. (1998) who, by cloning and sequencing a very likely comparative candidate gene (based on the homologous human and mouse disorders) in a colony of Brittany dogs segregating for C3 deficiency, identified a frameshift due to "a deletion of a cytosine at position 2136 (codon 712), leading to a frameshift that generates a stop codon 11 amino acids downstream".
Breed:
Brittany Spaniel (Dog) (VBO_0200239).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| C3 | complement component 3 | Canis lupus familiaris | 20 | NC_051824.1 (54220548..54253547) | C3 | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 455 | Brittany Spaniel (Dog) | C3 deficiency | C3 | deletion, small (<=20) | Naturally occurring variant | CanFam3.1 | 20 | g.53573746del | c.2136del | p.(F712Lfs*11) | XM_038428862.1; XP_038284790.1 "a deletion of a cytosine at position 2136 (codon 712), leading to a frameshift that generates a stop codon 11 amino acids downstream" | 1998 | 9510185 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2013). OMIA:000155-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2010 | Gerber, B., Eichenberger, S., Joller-Jemelka, H.I., Wittenbrink, M.M., Reusch, C.E. : |
| Complement C3 in Bernese Mountain dogs. Vet Clin Pathol 39:164-8, 2010. Pubmed reference: 20003027. DOI: 10.1111/j.1939-165X.2009.00205.x. | |
| 2008 | Aresu, L., Pregel, P., Bollo, E., Palmerini, D., Sereno, A., Valenza, F. : |
| Immunofluorescence staining for the detection of immunoglobulins and complement (C3) in dogs with renal disease. Vet Rec 163:679-82, 2008. Pubmed reference: 19060316. | |
| 2006 | Acierno, M.J., Labato, M.A., Stern, L.C., Mukherjee, J., Jakowski, R.M., Ross, L.A. : |
| Serum concentrations of the third component of complement in healthy dogs and dogs with protein-losing nephropathy. Am J Vet Res 67:1105-9, 2006. Pubmed reference: 16817728. DOI: 10.2460/ajvr.67.7.1105. | |
| 1998 | Ameratunga, R., Winkelstein, J.A., Brody, L., Binns, M., Cork, L.C., 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. J Immunol 160:2824-30, 1998. Pubmed reference: 9510185. | |
| 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. DOI: 10.1159/000163873. | |
| 1993 | Botto, M., Walport, M.J. : |
| Hereditary deficiency of C3 in animals and humans. Int Rev Immunol 10:37-50, 1993. Pubmed reference: 8340676. DOI: 10.3109/08830189309051170. | |
| Molleda, J.M., Lucena, R., López, R., Novales, M., Moreno, P., Ginel, P.J. : | |
| Effect of age on serum concentrations of the third component of complement in dogs. Zentralbl Veterinarmed B 40:409-12, 1993. Pubmed reference: 8284953. DOI: 10.1111/j.1439-0450.1993.tb00157.x. | |
| 1991 | Cork, L.C., Morris, J.M., Olson, J.L., Krakowka, S., Swift, A.J., Winkelstein, J.A. : |
| Membranoproliferative glomerulonephritis in dogs with a genetically determined deficiency of the third component of complement. Clin Immunol Immunopathol 60:455-70, 1991. Pubmed reference: 1864020. DOI: 10.1016/0090-1229(91)90101-f. | |
| 1989 | Porter, R.E., Weiser, M.G., Callahan, G.N. : |
| Development of an enzyme-linked immunosorbent assay to detect IgG, IgM, and complement (C3) on canine erythrocytes. Am J Vet Res 50:1365-9, 1989. Pubmed reference: 2782718. | |
| 1988 | O'Neil, K.M., Ochs, H.D., Heller, S.R., Cork, L.C., Morris, J.M., Winkelstein, J.A. : |
| Role of C3 in humoral immunity. Defective antibody production in C3-deficient dogs. J Immunol 140:1939-45, 1988. Pubmed reference: 3346548. | |
| 1987 | Johnson, J.P. : |
| C3-like activity in C3-deficient dog serum. Complement 4:53-60, 1987. Pubmed reference: 3105954. DOI: 10.1159/000463007. | |
| 1986 | Johnson, J.P., McLean, R.H., Cork, L.C., Winkelstein, J.A. : |
| Genetic analysis of an inherited deficiency of the third component of complement in Brittany spaniel dogs American Journal of Medical Genetics 25:557-562, 1986. Pubmed reference: 3789016. DOI: 10.1002/ajmg.1320250319. | |
| Winkelstein, J.A., Johnson, J.P., O'Neil, K.M., Cork, L.C. : | |
| Dogs deficient in C3. Prog Allergy 39:159-68, 1986. Pubmed reference: 3562462. DOI: 10.1159/000318543. | |
| 1985 | Blum, J.R., Cork, L.C., Morris, J.M., Olson, J.L., Winkelstein, J.A. : |
| The clinical manifestations of a genetically determined deficiency of the third component of complement in the dog. Clin Immunol Immunopathol 34:304-15, 1985. Pubmed reference: 2982527. DOI: 10.1016/0090-1229(85)90179-5. | |
| Johnson, J.P., Hammer, C.H., Winkelstein, J.A. : | |
| Purification of the third component of canine complement. Vet Immunol Immunopathol 8:377-89, 1985. Pubmed reference: 4002610. DOI: 10.1016/0165-2427(85)90007-8. | |
| Kay, P.H., Dawkins, R.L., Penhale, J.W. : | |
| The molecular structure of different polymorphic forms of canine C3 and C4. Immunogenetics 21:313-9, 1985. Pubmed reference: 3997206. DOI: 10.1007/BF00430797. | |
| 1983 | Garthwaite, G., Lloyd, D.H., Thomsett, L.R. : |
| Location of immunoglobulins and complement (C3) at the surface and within the skin of dogs. J Comp Pathol 93:185-93, 1983. Pubmed reference: 6345600. DOI: 10.1016/0021-9975(83)90005-1. | |
| 1982 | Winkelstein, J.A., Johnson, J.P., Swift, A.J., Ferry, F., Yolken, R., Cork, L.C. : |
| Genetically determined deficiency of the third component of complement in the dog: in vitro studies on the complement system and complement-mediated serum activities. J Immunol 129:2598-602, 1982. Pubmed reference: 7142701. | |
| 1981 | Winkelstein, J.A., Cork, L.C., Griffin, D.E., Griffin, J.W., Adams, R.J., Price, D.L. : |
| Genetically determined deficiency of the third component of complement in the dog. Science 212:1169-70, 1981. Pubmed reference: 7233211. DOI: 10.1126/science.7233211. |
Edit History
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 10 Aug 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 03 Sep 2012
- Changed by Frank Nicholas on 24 Sep 2013