OMIA 002493-9823 : Alzheimer disease, PSEN1-related in Sus scrofa |
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
104311 (gene)
,
607822 (trait)
Mendelian trait/disorder:
yes
Considered a defect:
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).
Breed:
Göttingen minipig.
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 |
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.
| 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