OMIA:002430-9823 : Beta-2-microglobulin deficiency in Sus scrofa |
Categories: Immune system phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 109700 (gene)
Links to MONDO diseases: No links.
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