OMIA:002772-9541 : Frontotemporal dementia, MAPT-related in Macaca fascicularis (crab-eating macaque)
Categories: Nervous system phene
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).
Have human generated variants been created, e.g. through genetic engineering and gene editing
|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
|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.|
- Created by Imke Tammen2 on 23 Sep 2023
- Changed by Imke Tammen2 on 23 Sep 2023