{"topic_id":"companion_breed_health_golden_retriever_omia4063_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_golden_retriever_omia4063_dog\ncategory: companion-breed-health\ntitle: \"Golden Retriever — Osteogenesis imperfecta, type III, COL1A1-related (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/golden_retriever_omia4063_4063.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 226\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_golden_retriever_omia4063_dog/01_companion_breed_health_golden_retriever_omia4063_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: \"Golden Retriever — Osteogenesis imperfecta, type III, COL1A1-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002126/9615/\"\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# Golden Retriever — Osteogenesis imperfecta, type III, COL1A1-related (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: Golden Retriever (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal dominant`\n- `Summary: See also entries for osteogenesis imperfecta for which likely causal variants have so far not been identied: a href=../../../../../../OMIA000754/9615/'OMIA:000754-9615/a : Osteogenesis imperfecta, generic' or types of the disease caused by variants in other genes, e.g., a href=../../../../../../OMIA002112/9615/OMIA:002112-9615/a Osteogenesis imperfecta, COL1A2-related' and 'a href=../../../../../../OMIA001483/9615/OMIA:001483-9615/a Osteogenesis imperfecta, SERPINH1-related'`\n- `Clin feat: Campbell et al. (2000): a 12-week-old male golden retriever puppy of small stature ... had multiple fractures in various stages of healing affecting the ribs and nearly every long bone. Dentinogenesis imperfecta was also present.`\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 388199150 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Campbell et al. (2000) showed that the disorder in a Golden Retriever was due to \"a G to C point mutation for nucleotide 1,276 [of the COL1A1 gene], predicting a codon change from glycine (GGA) to alanine (GCA) for amino acid 208. This change disrupts the normal Gly-X-Y pattern of the colla…\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- 1997. Clinical signs and diagnosis of osteogenesis imperfecta in three dogs. J Am Vet Med Assoc — PubMed:PMID9227748 — OMIA Phene_Article / Article\n- 2000. Sequence of normal canine COL1A1 cDNA and identification of a heterozygous alpha 1(I) collagen Gly208Ala mutation in a severe case of canine osteogenesis imperfecta. Arch Biochem Biophys — PubMed:PMID11147834 | DOI:10.1006/abbi.2000.2099 — OMIA Phene_Article / Article\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:259420 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:120150 (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 — Golden Retriever — Osteogenesis imperfecta, type III, COL1A1-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Golden Retriever — Osteogenesis imperfecta, type III, COL1A1-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/9227748/","retrieved":"","ref":"PMID 9227748","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":718,"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."}