OMIA:002493-9823 : Alzheimer disease, PSEN1-related in Sus scrofa (pig) |
In other species: white-tufted-ear marmoset , crab-eating macaque
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: yes
Year key variant first reported: 2013
Species-specific description: This phene includes references to studies involving 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
Breed:
Göttingen minipig.
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PSEN1 | presenilin 1 | Sus scrofa | 7 | NC_010449.5 (96478179..96567884) | PSEN1 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002493-9823: 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 | Uh, K., Monarch, K., Reese, E.D., Rodriguez, K., Yoon, J., Spate, L.D., Samuel, M.S., Koh, S., Chen, P.R., Jarome, T.J., Allen, T.A., Prather, R.S., Lee, K. : |
| Impaired skeletal development by disruption of presenilin-1 in pigs and generation of novel pig models for Alzheimer's disease. J Alzheimers Dis 101:445-461, 2024. Pubmed reference: 39177593. DOI: 10.3233/JAD-231297. | |
| 2021 | Yang, W., Chen, X., Li, S., Li, X.J. : |
| Genetically modified large animal models for investigating neurodegenerative diseases. Cell Biosci 11:218, 2021. Pubmed reference: 34933675. DOI: 10.1186/s13578-021-00729-8. | |
| 2013 | Jakobsen, J.E., Johansen, M.G., Schmidt, M., Dagnæs-Hansen, F., Dam, K., Gunnarsson, A., Liu, Y., Kragh, P.M., Li, R., Holm, I.E., Callesen, H., Mikkelsen, J.G., Nielsen, A.L., Jørgensen, A.L. : |
| Generation of minipigs with targeted transgene insertion by recombinase-mediated cassette exchange (RMCE) and somatic cell nuclear transfer (SCNT). Transgenic Res 22:709-23, 2013. Pubmed reference: 23111619. DOI: 10.1007/s11248-012-9671-6. |
Edit History
- Created by Imke Tammen2 on 09 Jan 2022
- Changed by Imke Tammen2 on 19 Mar 2022
- Changed by Imke Tammen2 on 18 Dec 2023