OMIA:002763-9541 : Severe combined immunodeficiency disease, IL2RG and RAG1-related in Macaca fascicularis (crab-eating macaque) |
Categories: Immune system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 179615 (gene) , 601457 (trait) , 308380 (gene) , 300400 (trait) , 312863 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2023
Species-specific description: Xiao et al. (2023) "outlines the creation of an immunodeficient monkey model by deactivating both the IL2RG and RAG1 genes using the [cytosine base editor] CBE4max system. he base-edited monkeys exhibited a severely compromised immune system characterized by lymphopenia, atrophy of lymphoid organs, and a deficiency of mature T cells." (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 genes:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| RAG1 | recombination activating gene 1 | Macaca fascicularis | - | no genomic information (-..-) | RAG1 | Homologene, Ensembl , NCBI gene |
| IL2RG | interleukin 2 receptor subunit gamma | Macaca fascicularis | X | NC_052275.1 (66928972..66918212) | IL2RG | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1622 | Severe combined immunodeficiency disease | IL2RG | nonsense (stop-gain) | Base-editing | Macaca_fascicularis_5.0 | X | g.68110639G>A | c.391C>T | p.(Q131*) | XM_005593892.2; XP_005593949.1 | 2023 | 37661226 | |||||
| 1621 | Severe combined immunodeficiency disease | RAG1 | nonsense (stop-gain) | Base-editing | Macaca_fascicularis_5.0 | 14 | g.30840789G>T | c.181C>T | p.(Q61*) | XM_005578172.2; XP_005578229.1 | 2023 | 37661226 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002763-9541: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2023 | Zheng, X., Huang, C., Lin, Y., Han, B., Chen, Y., Li, C., Li, J., Ding, Y., Song, X., Wang, W., Liang, W., Wu, J., Wu, J., Gao, J., Wei, C., Zhang, X., Tu, Z., Yan, S. : |
| Generation of inactivated IL2RG and RAG1 monkeys with severe combined immunodeficiency using base editing. Signal Transduct Target Ther 8:327, 2023. Pubmed reference: 37661226. DOI: 10.1038/s41392-023-01544-y. |
Edit History
- Created by Imke Tammen2 on 05 Sep 2023
- Changed by Imke Tammen2 on 05 Sep 2023
- Changed by Imke Tammen2 on 18 Dec 2023