OMIA:002538-9823 : Alzheimer disease, APP-related in Sus scrofa |
In other species: white-tufted-ear marmoset , crab-eating macaque , Rhesus monkey
Categories: Nervous system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 104300 (trait) , 104760 (gene) , 605714 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2009
Species-specific description: This phene includes references to studies involving genetically modified organisms (GMO).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| APP | amyloid beta (A4) precursor protein | Sus scrofa | 13 | NC_010455.5 (189716120..189434854) | APP | 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. | |
| 2012 | Søndergaard, L.V., Ladewig, J., Dagnæs-Hansen, F., Herskin, M.S., Holm, I.E. : |
| Object recognition as a measure of memory in 1-2 years old transgenic minipigs carrying the APPsw mutation for Alzheimer's disease. Transgenic Res 21:1341-8, 2012. Pubmed reference: 22661126 . DOI: 10.1007/s11248-012-9620-4. | |
| 2009 | Kragh, P.M., Nielsen, A.L., Li, J., Du, Y., Lin, L., Schmidt, M., Bøgh, I.B., Holm, I.E., Jakobsen, J.E., Johansen, M.G., Purup, S., Bolund, L., Vajta, G., Jørgensen, A.L. : |
| Hemizygous minipigs produced by random gene insertion and handmade cloning express the Alzheimer's disease-causing dominant mutation APPsw. Transgenic Res 18:545-58, 2009. Pubmed reference: 19184503 . DOI: 10.1007/s11248-009-9245-4. |
Edit History
- Created by Imke Tammen2 on 19 Mar 2022
- Changed by Imke Tammen2 on 19 Mar 2022