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

Considered a defect: 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 - no genomic information (-..-) 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