OMIA:002179-9823 : Stargardt disease 1 in Sus scrofa (pig) |
In other species: dog , fat sand rat
Categories: Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 248200 (trait) , 601691 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: unknown
Disease-related: yes
Species-specific description: 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 |
|---|---|---|---|---|---|---|
| ABCA4 | ATP binding cassette subfamily A member 4 | Sus scrofa | 4 | NC_010446.5 (123202720..123333044) | ABCA4 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002179-9823: 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 | Wei, S.C., Cantor, A.J., Walleshauser, J., Mepani, R., Melton, K., Bans, A., Khekare, P., Gupta, S., Wang, J., Soares, C., Kiwan, R., Lee, J., McCawley, S., Jani, V., Leong, W.I., Shahi, P.K., Chan, J., Boivin, P., Otoupal, P., Pattnaik, B.R., Gamm, D.M., Saha, K., Gowen, B.G., Haak-Frendscho, M., Janatpour, M.J., Silverman, A.P. : |
| Evaluation of subretinally delivered Cas9 ribonucleoproteins in murine and porcine animal models highlights key considerations for therapeutic translation of genetic medicines. bioRxiv , 2024. Pubmed reference: 39803585. DOI: 10.1101/2024.12.30.630799. | |
| 2023 | Wimmer, T., Sawinski, H., Urban, A.M., Motlik, J., Stieger, K. : |
| Rapid and reliable quantification of prime editing targeting within the porcine ABCA4 gene using a BRET-based sensor. Nucleic Acid Ther 33:226-232, 2023. Pubmed reference: 36857739. DOI: 10.1089/nat.2022.0037. |
Edit History
- Created by Imke Tammen2 on 08 Mar 2023
- Changed by Imke Tammen2 on 18 Dec 2023