OMIA:001926-9823 : Achondrogenesis, type II in Sus scrofa (pig) |
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: 200610 (trait) , 120140 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: no
Species-specific description: 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 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). 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