--- license: permission_granted topic_id: companion_breed_health_domestic_shorthair_omia4934_cat category: companion-breed-health title: "Domestic Shorthair — Osteogenesis imperfecta, CREB3L1-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/domestic_shorthair_omia4934_4934.txt date_parsed: 2026-08-02 tokens_estimated: 226 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_domestic_shorthair_omia4934_cat/01_companion_breed_health_domestic_shorthair_omia4934_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Domestic Shorthair — Osteogenesis imperfecta, CREB3L1-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002533/9685/" 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
Domestic Shorthair — Osteogenesis imperfecta, CREB3L1-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: Domestic Shorthair (Cat)Disorder:Mode of inheritance: Probably autosomal recessiveClin feat: Takanosu and Kagawa (2022): Blood and radiographic examinations were performed on presentation. Radiographs revealed decreased opacity of numerous bones. Fractures were observed in some long bones, including femur and tibia.Defect: yesPathology: Takanosu and Kagawa (2022): Histologic examination of the tibia showed decreased osteoid and osteoblasts at the primary spongiosa extending from the growth plate. The periosteum was thickened, and cortical bone and osteoblasts were decreased. Consequently, osteogenesis imperfecta was diagnosed.Prevalence: Not having access to any family samples from the affected stray cat, Takanosu and Kagawa (2022) genotyped 136 normal cats, none of which carried the likely causal variant.
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 389718580 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Takanosu and Kagawa (2022) described a kitten born to a stray cat in Japan. Having diagnosed the kitten as being affected with osteogenesis imperfecta, the authors performed a whole-genome sequence and then searched for mutations in comparative (human) candidate genes, finding just one likely causal variant, namely a "2-bp deletion in exon 3 of CREB3L1 (c.370_371delTG) [omia.variant:1428]. This mu…
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.
- 2022. Severe osteogenesis imperfecta caused by CREB3L1 mutation in a cat. J Vet Diagn Invest — PubMed:PMID35168412 | DOI:10.1177/10406387221081227 — 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:616229 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:616215 (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."