OMIA 002430-9823 : Beta-2-microglobulin deficiency in Sus scrofa

Possibly relevant human trait(s) and/or gene(s) (MIM number): 109700 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific description: Sake et al. (2019) "demonstrate the feasibility of generating SLA class I knockout pigs by targeting the porcine beta-2-microglobulin gene using the CRISPR/Cas9 system. Additionally, our findings indicate for the first time that this genetic modification might have a negative impact on the viability of the animals. These issues need to be solved to unveil the real value for xenotransplantation in the future." This study involves genetically modified organisms (GMO).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
B2M beta-2-microglobulin Sus scrofa 1 NC_010443.5 (126878501..126865767) B2M Homologene, Ensembl, NCBI gene

Reference


2019 Sake, H.J., Frenzel, A., Lucas-Hahn, A., Nowak-Imialek, M., Hassel, P., Hadeler, K.G., Hermann, D., Becker, R., Eylers, H., Hein, R., Baars, W., Brinkmann, A., Schwinzer, R., Niemann, H., Petersen, B. :
Possible detrimental effects of beta-2-microglobulin knockout in pigs. Xenotransplantation 26:e12525, 2019. Pubmed reference: 31119817. DOI: 10.1111/xen.12525.

Edit History


  • Created by Imke Tammen2 on 18 Sep 2021