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OMIA:002772-9541 : Frontotemporal dementia, MAPT-related in Macaca fascicularis (crab-eating macaque)

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 157140 (gene) , 600274 (trait)

Mendelian trait/disorder: yes

Disease-related: 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_088390.1 (67475008..67607303) 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