OMIA:002614-9823 : Angelman syndrome in Sus scrofa (pig) |
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 105830 (trait) , 601623 (gene)
Single-gene trait/disorder: unknown
Disease-related: unknown
Species summary: 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 |
|---|---|---|---|---|---|---|
| UBE3A | ubiquitin protein ligase E3A | Sus scrofa | 1 | NC_010443.5 (141887179..142001595) | UBE3A | Ensembl, NCBI gene |
Contact us
If you notice anything missing or in need of change, please contact us at: [email protected].
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002614-9823: 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.
| 2025 | Myers, L.S., Christian, S.G., Simpson, S., Sper, R., Taylor, C., Montes, L., Jepp, T.B.C., Ramos, D., Schuller, L., Konganti, K., Friedeck, W., Habib, O., Hodge, M., Taylor, A.J., Coffell, A., Schlafer, A., Matt, M., Revell, B., Knight, C., Barreña, C.C., Murphy, W.J., Weeber, E.J., Segal, D.J., Anderson, A., Nash, K.R., Silverman, J.L., Piedrahita, J.A., Dindot, S.V. : |
| A preclinical pig model of Angelman syndrome mirrors the early developmental trajectory of the human condition. Proc Natl Acad Sci U S A 122:e2505152122, 2025. Pubmed reference: 40690672. DOI: 10.1073/pnas.2505152122. | |
| 2023 | Beitnere, U., Vilanova-Cuevas, B., Christian, S.G., Taylor, C., Berg, E.L., Copping, N.A., Dindot, S.V., Silverman, J.L., Gareau, M.G., Segal, D.J. : |
| Unique features of the gut microbiome characterized in animal models of Angelman syndrome. mSystems 8:e0060822, 2023. Pubmed reference: 36598241. DOI: 10.1128/msystems.00608-22. |
Edit History
- Created by Imke Tammen2 on 19 Jan 2023
- Changed by Imke Tammen2 on 18 Dec 2023