OMIA:002430-9823 : Beta-2-microglobulin deficiency in Sus scrofa (pig) |
Categories: Immune system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 109700 (gene)
Mendelian trait/disorder: yes
Disease-related: 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).
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 |
---|---|---|---|---|---|---|
B2M | beta-2-microglobulin | Sus scrofa | 1 | NC_010443.5 (126878501..126865767) | B2M | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002430-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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
- Changed by Imke Tammen2 on 18 Dec 2023