OMIA:002493-9483 : Alzheimer disease, PSEN1-related in Callithrix jacchus (white-tufted-ear marmoset) |
In other species: crab-eating macaque , 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
Disease-related: 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. | |
| Sato, K., Sasaguri, H., Kumita, W., Sakuma, T., Morioka, T., Nagata, K., Inoue, T., Kurotaki, Y., Mihira, N., Tagami, M., Manabe, R.I., Ozaki, K., Okazaki, Y., Yamamoto, T., Suematsu, M., Saido, T.C., Sasaki, E. : | |
| Production of a heterozygous exon skipping model of common marmosets using gene-editing technology. Lab Anim (NY) 53:244-251, 2024. Pubmed reference: 39215182. DOI: 10.1038/s41684-024-01424-0. | |
| 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