{"topic_id":"companion_breed_health_brittany_spaniel_omia31_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_brittany_spaniel_omia31_dog\ncategory: companion-breed-health\ntitle: \"Brittany Spaniel — C3 deficiency (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/brittany_spaniel_omia31_31.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 88\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_brittany_spaniel_omia31_dog/01_companion_breed_health_brittany_spaniel_omia31_dog.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Brittany Spaniel — C3 deficiency (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000155/9615/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Brittany Spaniel — C3 deficiency (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Brittany Spaniel (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Summary: Deficiency of the third component of complement results in susceptibility to a range of bacterial infections and to type 1 membranoproliferative glomerulonephritis.`\n- `Defect: yes`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 3477095 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- 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…\n\n## Evidence (references)\nDerived 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.\n- 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\n- 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\n- 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\n- 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\n- 2008. Immunofluorescence staining for the detection of immunoglobulins and complement (C3) in dogs with renal disease. Vet Rec — PubMed:PMID19060316 — OMIA Phene_Article / Article\n- 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\n- 1994. Complement C3 deficiency: human, animal, and experimental models. Pathobiology — PubMed:PMID8031472 | DOI:10.1159/000163873 — OMIA Phene_Article / Article\n- 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\n- 1993. Hereditary deficiency of C3 in animals and humans. Int Rev Immunol — PubMed:PMID8340676 | DOI:10.3109/08830189309051170 — OMIA Phene_Article / Article\n- 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\n- 1988. Role of C3 in humoral immunity. Defective antibody production in C3-deficient dogs. J Immunol — PubMed:PMID3346548 — OMIA Phene_Article / Article\n- 1987. C3-like activity in C3-deficient dog serum. Complement — PubMed:PMID3105954 | DOI:10.1159/000463007 — OMIA Phene_Article / Article\n- (7 additional references in OMIA)\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:613779 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:120700 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Brittany Spaniel — C3 deficiency (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Brittany Spaniel — C3 deficiency (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/1864020/","retrieved":"","ref":"PMID 1864020","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":955,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}