OMIA 001926-9823 : Achondrogenesis, type II in Sus scrofa |
In other species:
cattle
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
200610 (trait)
,
120140 (gene)
Mendelian trait/disorder:
yes
Considered a defect:
yes
Key variant known:
no
Species-specific description:
This is a CRISPR-engineered disorder, and is, therefore, a genetically-modified organism (GMO)
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 |
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