OMIA:002772-9541 : Frontotemporal dementia, MAPT-related in Macaca fascicularis (crab-eating macaque) |
Categories: Nervous system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 157140 (gene) , 600274 (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: Tu et al. (2023) "established non-human primate models that express mutant human Tau P301L (0N4R P301L) via embryonic lentiviral transduction and stereotaxic brain injection of AAV. [The authors] found that mutant Tau elicited neurodegeneration accompanied by typical features of tauopathy and motor function deficits." This study involves genetically engineered or 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 |
|---|---|---|---|---|---|---|
| MAPT | microtubule associated protein tau | Macaca fascicularis | 16 | NC_052270.1 (21978446..21845924) | MAPT | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002772-9541: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2023 | Tu, Z., Yan, S., Han, B., Li, C., Liang, W., Lin, Y., Ding, Y., Wei, H., Wang, L., Xu, H., Ye, J., Li, B., Li, S., Li, X.J. : |
| Tauopathy promotes spinal cord-dependent production of toxic amyloid-beta in transgenic monkeys. Signal Transduct Target Ther 8:358, 2023. Pubmed reference: 37735155. DOI: 10.1038/s41392-023-01601-6. |
Edit History
- Created by Imke Tammen2 on 23 Sep 2023
- Changed by Imke Tammen2 on 23 Sep 2023
- Changed by Imke Tammen2 on 18 Dec 2023