{"topic_id":"companion_breed_health_domestic_shorthair_omia6805_cat","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_domestic_shorthair_omia6805_cat\ncategory: companion-breed-health\ntitle: \"Domestic Shorthair — Osteogenesis imperfecta, BMP1-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/domestic_shorthair_omia6805_6805.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 182\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_domestic_shorthair_omia6805_cat/01_companion_breed_health_domestic_shorthair_omia6805_cat.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: \"Domestic Shorthair — Osteogenesis imperfecta, BMP1-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA003044/9685/\"\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# Domestic Shorthair — Osteogenesis imperfecta, BMP1-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: Domestic Shorthair (Cat)`\n- `Disorder: `\n- `Mode of inheritance: Probably autosomal recessive`\n- `Clin feat: Takanosu et al. (2026) report a 3-month-old domestic shorthair cat which presented with multiple fractures. Bone morphology was normal radiographically, with no long bone deformity or increased bone translucency.`\n- `Defect: yes`\n- `Pathology: Takanosu et al. (2026): A bone biopsy from the ilium was examined histologically, revealing that bone matrix in the trabeculae extended from the growth plate, but cartilage remained in the distal trabeculae. Osteoblasts were observed at the bone surface via immunohistochemical detection with an anti-RUNX2 antibody.`\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 398299088 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Takanosu et al. (2026) reported a 3-month-old domestic shorthair with osteogenesis imperfecta: \"Whole-genome sequencing identified a homozygous missense mutation (valine to methionine) [omia.variant:1874] in the zinc-dependent metalloprotease domain of&nbsp;<em>BMP1</em>, a gene associated with human osteogenesis imperfecta type 13.\"\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- 2026. Missense mutation of BMP1 may cause feline osteogenesis imperfecta without bone deformity. J Vet Diagn Invest — PubMed:PMID41562138 | DOI:10.1177/10406387251410629 — 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:112264 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:614856 (type: trait) — 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 — Domestic Shorthair — Osteogenesis imperfecta, BMP1-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Domestic Shorthair — Osteogenesis imperfecta, BMP1-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/41562138/","retrieved":"","ref":"PMID 41562138","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":620,"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."}