OMIA:002127-9940 : Osteogenesis imperfecta, type II, COL1A1-related in Ovis aries (sheep) |
In other species: taurine cattle
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 166210 (trait) , 120150 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal dominant
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2025
Molecular basis: Jacinto et al. (2025): "Three paternal half-sib crossbred lambs ... , progeny of the same Charollais, were aborted and pathologically diagnosed with OI [Osteogenesis imperfecta]. Assuming a dominant MOI [mode of inheritance], a heterozygous missense variant in exon 18 of [the functional candidate gene] COL1A1, located at the triple-helical region (Chr11:g. 36197409G > A; c.1189G > A; p.Gly397Ser) [omia.variant:1838], was identified as a potential causal variant."
Breed:
Charollais (Sheep) (VBO_0001368).
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:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| COL1A1 | collagen type I alpha 1 chain | Ovis aries | 11 | NC_056064.1 (36191118..36208942) | COL1A1 | Ensembl, NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1838 | Charollais (Sheep) | Osteogenesis imperfecta, type II | COL1A1 | substitution | missense | Naturally occurring variant | Not currently evaluated | ARS-UI_Ramb_v2.0 | 11 | NC_056064.1:g.36197409G>A | XM_027974705.2:c.1189G>A | XP_027830506.1:p.(G397S) | 2025 | 40999323 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002127-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Edit History
- Created by Imke Tammen2 on 09 Oct 2025
- Changed by Imke Tammen2 on 09 Oct 2025