OMIA:002748-9544 : Parkinson disease, PRKN-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: 602544 (gene) , 600116 (trait)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2024
Cross-species summary: PRKN is also called Parkin, or PARK2
Species-specific description:
Han et al. (2024) "utilized CRISPR/Cas9 technology to establish parkin-deficient monkey models at different ages. [The authors] found that parkin deficiency leads to substantia nigra neurodegeneration in adult monkey brains and that parkin phosphorylation decreases with aging, primarily due to increased insolubility of parkin."
This phene includes references to studies involving 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 |
---|---|---|---|---|---|---|
PRKN | parkin RBR E3 ubiquitin protein ligase | Macaca mulatta | 4 | NC_041757.1 (8030146..9397207) | PRKN | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002748-9544: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
2024 | Han, R., Wang, Q., Xiong, X., Chen, X., Tu, Z., Li, B., Zhang, F., Chen, C., Pan, M., Xu, T., Chen, L., Wang, Z., Liu, Y., He, D., Guo, X., He, F., Wu, P., Yin, P., Liu, Y., Yan, X., Li, S., Li, X.J., Yang, W. : |
Deficiency of parkin causes neurodegeneration and accumulation of pathological α-synuclein in monkey models. J Clin Invest 134:e179633, 2024. Pubmed reference: 39403921. DOI: 10.1172/JCI179633. |
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- Created by Imke Tammen2 on 18 Oct 2024