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:

Single-gene 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