OMIA:001926-9823 : Achondrogenesis, type II in Sus scrofa (pig) |
In other species: taurine cattle , sheep
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 200610 (trait) , 120140 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal dominant
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2020
Species summary: This is a CRISPR-engineered disorder, and is, therefore, a genetically-modified organism (GMO)
Genetic engineering:
Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| COL2A1 | collagen, type II, alpha 1 | Sus scrofa | 5 | NC_010447.5 (78380893..78350131) | COL2A1 | 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 | AVCG Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1889 | Achondrogenesis, type II | COL2A1 | haplotype | frameshift | Genome-editing (CRISPR-Cas9) | Not currently evaluated | Sscofa11.1 | 5 | NC_010447.5:g.[78361637del;78361641C>T] | XM_021092611.1:c.[1744G>A;1749del] | XP_020948270.1:p.[(G582S;D584fs)] | 2020 | 32450343 |
* Variant pathogenicity for single-gene diseases as evaluated according to the Animal Variant Classification Guidelines (AVCG) by the Variant Pathogenicity Working Group of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization (AGTS) Standing Committee: P = pathogenic, LP = likely pathogenic, VUS = variant of unknown significance, LB = likely benign, B = benign. For more information (including details on the classification of each variant) see LINKS.
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:001926-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2020 | Zhang, B., Wang, C., Zhang, Y., Jiang, Y., Qin, Y., Pang, D., Zhang, G., Liu, H., Xie, Z., Yuan, H., Ouyang, H., Wang, J., Tang, X. : |
| A CRISPR-engineered swine model of COL2A1 deficiency recapitulates altered early skeletal developmental defects in humans. Bone 137:115450, 2020. Pubmed reference: 32450343. DOI: 10.1016/j.bone.2020.115450. |
Edit History
- Created by Frank Nicholas on 02 Jun 2020
- Changed by Imke Tammen2 on 18 Dec 2023
- Changed by Imke Tammen2 on 10 Apr 2026