--- license: permission_granted topic_id: companion_breed_health_golden_retriever_omia4063_dog category: companion-breed-health title: "Golden Retriever — Osteogenesis imperfecta, type III, COL1A1-related (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/golden_retriever_omia4063_4063.txt date_parsed: 2026-08-02 tokens_estimated: 226 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_golden_retriever_omia4063_dog/01_companion_breed_health_golden_retriever_omia4063_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: "Golden Retriever — Osteogenesis imperfecta, type III, COL1A1-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002126/9615/" 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
Golden Retriever — Osteogenesis imperfecta, type III, COL1A1-related (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: Golden Retriever (Dog)Disorder:Mode of inheritance: Autosomal dominantSummary: 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'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.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 388199150 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- 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…
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.
- 1997. Clinical signs and diagnosis of osteogenesis imperfecta in three dogs. J Am Vet Med Assoc — PubMed:PMID9227748 — OMIA Phene_Article / Article
- 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
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:259420 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:120150 (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."