OMIA:002493-9541 : Alzheimer disease, PSEN1-related in Macaca fascicularis (crab-eating macaque) |
In other species: white-tufted-ear marmoset , pig
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 104311 (gene) , 607822 (trait)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: no
Species-specific description: Li et al. (2024) used CRISPR/Cas9 editing to delete exon 9 in cynomolgus monkeys: "PSEN1 mutant cynomolgus monkeys recapitulate AD-related pathological protein changes, and reveal early alterations in blood immune signaling."
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 |
|---|---|---|---|---|---|---|
| PSEN1 | presenilin 1 | Macaca fascicularis | 7 | NC_088381.1 (141034859..141118444) | PSEN1 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002493-9541: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Li, M., Guan, M., Lin, J., Zhu, K., Zhu, J., Guo, M., Li, Y., Chen, Y., Chen, Y., Zou, Y., Wu, D., Xu, J., Yi, W., Fan, Y., Ma, S., Chen, Y., Xu, J., Yang, L., Dai, J., Ye, T., Lu, Z., Chen, Y. : |
| Early blood immune molecular alterations in cynomolgus monkeys with a PSEN1 mutation causing familial Alzheimer's disease. Alzheimers Dement 20:5492-5510, 2024. Pubmed reference: 38973166. DOI: 10.1002/alz.14046. |
Edit History
- Created by Imke Tammen2 on 27 Jul 2024
- Changed by Imke Tammen2 on 27 Jul 2024