OMIA:002044-9544 : Ataxia telangiectasia, ATM-related in Macaca mulatta (Rhesus monkey) |
In other species: pig
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 208900 (trait) , 607585 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Disease-related: unknown
Key variant known: yes
Year key variant first reported: 2025
Species summary: Xu et al. (2025) used CRISPR-Cas9 technology to generate ATM-deficient rhesus macaques which exhibited clinical and pathologlocal findings similar to those reported in humans affected with ataxia-telangiectasia. This study involves gene edited or 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 |
|---|---|---|---|---|---|---|
| ATM | ATM serine/threonine kinase | Macaca mulatta | 14 | NC_041767.1 (101470050..101605734) | ATM | Ensembl, NCBI gene |
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002044-9544: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Xu, K., Zhang, Y., Chen, Y., Zhu, X., Li, Y., Lv, L., He, X., Hu, Z., Li, Y., Ye, M., Jiang, D., He, Z., Jin, W., Li, Y., Yu, X., Zhang, D.F., Herrup, K., Zheng, P., Yao, Y.G., Wu, D.D., Li, J. : |
| ATM deficiency drives phenotypic diversity and Purkinje cell degeneration in a macaque model of ataxia-telangiectasia. Cell Rep Med 6:S2666-3791(25)00428-8:102355, 2025. Pubmed reference: 40961921. DOI: 10.1016/j.xcrm.2025.102355. |
Edit History
- Created by Imke Tammen2 on 19 Sep 2025
- Changed by Imke Tammen2 on 19 Sep 2025