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OMIA:000899-10036 : Severe combined immunodeficiency disease, X-linked in Mesocricetus auratus (golden hamster)

In other species: dog , pig

Categories: Immune system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 300400 (trait) , 308380 (gene) , 312863 (trait)

Links to MONDO diseases:

Mendelian trait/disorder: unknown

Considered a defect: 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