Osteogenesis imperfecta, COL1A2-related
Phenotype Details
- Phene ID
- 6684
- Name
- Osteogenesis imperfecta, COL1A2-related
- Phene Name
- N/A
- OMIA ID
- 2112
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2025
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1837 | Osteogenesis imperfecta | 398299052 | 1 | 4 | NC_037331.1:g.11792118G > A | NM_174520.2:c.1156G > A | NP_776945.1:p.(G386R) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Stabiliser, United Kingdom of Great Britain and Northern Ireland (Cattle) | 1516 | 9913 | http://purl.obolibrary.org/obo/VBO_0004811 |
Molecular Genetics
Jacinto et al. (2025) investigated two aborted half-sib Stabiliser calves with osteogenesis imperfecta. Whole genome sequencing identified a likely "heterozygous missense variant in exon 21 of [the functional candidate gene] COL1A2, located in the triple-helical region (Chr4:g.11792118G > A; c.1156G > A; p.Gly386Arg) [omia.variant:1837]. ... The variant may be a de novo mutation inherited from a germinal mosaic sire."