OMIA:001929-9823 : Retinal atrophy - Cone-rod dystrophy 6 in Sus scrofa (pig) |
Categories: Vision / eye phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601777 (trait) , 600179 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: no
Species-specific symbol: CORD6
Species-specific description: Genetically-modifed organism; GMO
Molecular basis: Kostic et al. (2013) used lentiviral transgenesis to create pigs with a deleterious mutation in the GUCY2D gene, known to cause cone-rod dystrophy 6 (CORD6) in humans (see OMIM link above). These transgenic pigs show promise as a large-animal model of an important human disease.
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 |
|---|---|---|---|---|---|---|
| GUCY2D | Sus scrofa | 12 | NC_010454.4 (53200570..53250566) | GUCY2D | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001929-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2013 | Kostic, C., Lillico, S.G., Crippa, S.V., Grandchamp, N., Pilet, H., Philippe, S., Lu, Z., King, T.J., Mallet, J., Sarkis, C., Arsenijevic, Y., Whitelaw, C.B. : |
| Rapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophy. PLoS One 8:e71363, 2013. Pubmed reference: 23977029. DOI: 10.1371/journal.pone.0071363. |
Edit History
- Created by Frank Nicholas on 10 Sep 2014
- Changed by Frank Nicholas on 10 Sep 2014
- Changed by Frank Nicholas on 29 Sep 2016
- Changed by Imke Tammen2 on 14 Jul 2021
- Changed by Imke Tammen2 on 18 Dec 2023