OMIA:002179-9823 : Stargardt disease 1 in Sus scrofa (pig) |
In other species: dog
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:
Mendelian 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
Reference
| 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