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)

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)

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