OMIA:000899-10036 : Severe combined immunodeficiency disease, X-linked in Mesocricetus auratus (golden hamster) |
Categories: Immune system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 300400 (trait) , 308380 (gene) , 312863 (trait)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: unknown
Disease-related: yes
Species-specific description: This disorder in hamsters has been produced by targeted disruption of the IL2RG gene (natural mutations in which cause X-linked SCID in dogs and humans). Thus, the reports in this entry concern 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 |
---|---|---|---|---|---|---|
Il2rg | interleukin 2 receptor, gamma | Mesocricetus auratus | NW_024429188.1 (47811053..47807139) | Il2rg | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000899-10036: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
2020 | Li, R., Ying, B., Liu, Y., Spencer, J.F., Miao, J., Tollefson, A.E., Brien, J.D., Wang, Y., Wold, W.S.M., Wang, Z., Toth, K. : |
Generation and characterization of an IL2RG knockout Syrian hamster model for XSCID and HAdV-C6 infection in immunocompromised patients. Dis Model Mech 13:dmm044602, 2020. Pubmed reference: 32651192. DOI: 10.1242/dmm.044602. |
Edit History
- Created by Frank Nicholas on 16 Jul 2020
- Changed by Frank Nicholas on 16 Jul 2020
- Changed by Imke Tammen2 on 12 Dec 2023