OMIA:002130-8090 : Oculocutaneous albinism, OCA2-related in Oryzias latipes (Japanese medaka) |
In other species: Mexican tetra , guppy , Rhesus monkey , dog , pig , corn snake
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 203200 (trait) , 611409 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: no
Cross-species summary: Tyrosinase-positive oculocutaneous albinism (OCA, type II) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Renamed from 'Coat colour, oculocutaneous albinism, OCA2-related' [07/09/2024]
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 |
|---|---|---|---|---|---|---|
| oca2 | oculocutaneous albinism II | Oryzias latipes | 4 | NC_019862.2 (28056876..27996365) | oca2 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002130-8090: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Jiang, Y., Pan, Q., Wang, Z., Lu, K., Xia, B., Chen, T. : |
| Efficient genome editing in medaka (Oryzias latipes) using a codon-optimized SaCas9 system. J Zhejiang Univ Sci B 25:1673-1581(2024)12-1083-14:1083-1096, 2024. Pubmed reference: 39743295. DOI: 10.1631/jzus.B2300899. |
Edit History
- Created by Imke Tammen2 on 08 Jan 2025