OMIA:002493-9823 : Alzheimer disease, PSEN1-related in Sus scrofa (pig)
In other species: white-tufted-ear marmoset
Categories: Nervous system phene
Links to MONDO diseases: No links.
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).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|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
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.|
- Created by Imke Tammen2 on 09 Jan 2022
- Changed by Imke Tammen2 on 19 Mar 2022