OMIA:002493-9483 : Alzheimer disease, PSEN1-related in Callithrix jacchus (white-tufted-ear marmoset)

In other species: 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: unknown

Considered a defect: yes

Species-specific description: This phene includes references to studies involving gene edited or genetically 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
PSEN1 presenilin 1 Callithrix jacchus 10 NC_071451.1 (104013384..104101206) PSEN1 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002493-9483: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 Homanics, G.E., Park, J.E., Bailey, L., Schaeffer, D.J., Schaeffer, L., He, J., Li, S., Zhang, T., Haber, A., Spruce, C., Greenwood, A., Murai, T., Schultz, L., Mongeau, L., Ha, S.K., Oluoch, J., Stein, B., Choi, S.H., Huhe, H., Thathiah, A., Strick, P.L., Carter, G.W., Silva, A.C., Sukoff Rizzo, S.J. :
Early molecular events of autosomal-dominant Alzheimer's disease in marmosets with PSEN1 mutations. Alzheimers Dement 20:3455-3471, 2024. Pubmed reference: 38574388. DOI: 10.1002/alz.13806.
2023 Sukoff Rizzo, S.J., Homanics, G., Schaeffer, D.J., Schaeffer, L., Park, J.E., Oluoch, J., Zhang, T., Haber, A., Seyfried, N.T., Paten, B., Greenwood, A., Murai, T., Choi, S.H., Huhe, H., Kofler, J., Strick, P.L., Carter, G.W., Silva, A.C. :
Bridging the rodent to human translational gap: Marmosets as model systems for the study of Alzheimer's disease. Alzheimers Dement (N Y) 9:e12417, 2023. Pubmed reference: 37614242. DOI: 10.1002/trc2.12417.

Edit History


  • Created by Imke Tammen2 on 25 Aug 2023
  • Changed by Imke Tammen2 on 18 Dec 2023