OMIA 001926-9823 : Achondrogenesis, type II in Sus scrofa

In other species: cattle

Possibly relevant human trait(s) and/or gene(s) (MIM number): 200610

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 :115450, 2020. Pubmed reference: 32450343. DOI: 10.1016/j.bone.2020.115450.

Edit History


  • Created by Frank Nicholas on 02 Jun 2020