Links to possible relevant human trait(s) and/or gene(s) in OMIM: 112264 (gene) , 614856 (trait)

Links to relevant human diseases in MONDO:

• MONDO:0013924: osteogenesis imperfecta type 13

Single-gene trait/disorder: yes

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2026

Molecular basis: 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 BMP1, a gene associated with human osteogenesis imperfecta type 13."

Clinical features: 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."

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."

Breed: Domestic Shorthair (Cat) (VBO_0100119).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

Associated gene: