--- license: permission_granted topic_id: companion_breed_health_brittany_spaniel_omia31_dog category: companion-breed-health title: "Brittany Spaniel — C3 deficiency (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/brittany_spaniel_omia31_31.txt date_parsed: 2026-08-02 tokens_estimated: 88 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_brittany_spaniel_omia31_dog/01_companion_breed_health_brittany_spaniel_omia31_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Brittany Spaniel — C3 deficiency (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000155/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
Brittany Spaniel — C3 deficiency (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Brittany Spaniel (Dog)Disorder:Mode of inheritance: Autosomal recessiveSummary: Deficiency of the third component of complement results in susceptibility to a range of bacterial infections and to type 1 membranoproliferative glomerulonephritis.Defect: yes
Associated gene(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: Entrez Gene ID 3477095 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: 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…
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 1991. Membranoproliferative glomerulonephritis in dogs with a genetically determined deficiency of the third component of complement. Clin Immunol Immunopathol — PubMed:PMID1864020 | DOI:10.1016/0090-1229(91)90101-f — OMIA Phene_Article / Article
- 1986. Genetic analysis of an inherited deficiency of the third component of complement in Brittany spaniel dogs. American Journal of Medical Genetics — PubMed:PMID3789016 | DOI:10.1002/ajmg.1320250319 — OMIA Phene_Article / Article
- 1998. Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency. J Immunol — PubMed:PMID9510185 — OMIA Phene_Article / Article
- 2010. Complement C3 in Bernese Mountain dogs. Vet Clin Pathol — PubMed:PMID20003027 | DOI:10.1111/j.1939-165X.2009.00205.x — OMIA Phene_Article / Article
- 2008. Immunofluorescence staining for the detection of immunoglobulins and complement (C3) in dogs with renal disease. Vet Rec — PubMed:PMID19060316 — OMIA Phene_Article / Article
- 2006. Serum concentrations of the third component of complement in healthy dogs and dogs with protein-losing nephropathy. Am J Vet Res — PubMed:PMID16817728 | DOI:10.2460/ajvr.67.7.1105 — OMIA Phene_Article / Article
- 1994. Complement C3 deficiency: human, animal, and experimental models. Pathobiology — PubMed:PMID8031472 | DOI:10.1159/000163873 — OMIA Phene_Article / Article
- 1993. Effect of age on serum concentrations of the third component of complement in dogs. Zentralbl Veterinarmed B — PubMed:PMID8284953 | DOI:10.1111/j.1439-0450.1993.tb00157.x — OMIA Phene_Article / Article
- 1993. Hereditary deficiency of C3 in animals and humans. Int Rev Immunol — PubMed:PMID8340676 | DOI:10.3109/08830189309051170 — OMIA Phene_Article / Article
- 1989. Development of an enzyme-linked immunosorbent assay to detect IgG, IgM, and complement (C3) on canine erythrocytes. Am J Vet Res — PubMed:PMID2782718 — OMIA Phene_Article / Article
- 1988. Role of C3 in humoral immunity. Defective antibody production in C3-deficient dogs. J Immunol — PubMed:PMID3346548 — OMIA Phene_Article / Article
- 1987. C3-like activity in C3-deficient dog serum. Complement — PubMed:PMID3105954 | DOI:10.1159/000463007 — OMIA Phene_Article / Article
- (7 additional references in OMIA)
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:613779 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:120700 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."