OMIA:001821-8090 : Coat colour, albinism, oculocutaneous type IV in Oryzias latipes (Japanese medaka) |
In other species: western gorilla , dog , taurine cattle
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606574 (trait) , 227240 (trait) , 606202 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2008
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
slc45a2 | solute carrier family 45, member 2 | Oryzias latipes | 12 | NC_019870.2 (10572990..10600469) | slc45a2 | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
746 | Coat colour, albinism, oculocutaneous type IV | slc45a2 | complex rearrangement | Naturally occurring variant | an inversion of 167 bp, an insertion of 48 bp, and a deletion of 172 bp | 2008 | 18245373 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2013). OMIA:001821-8090: 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.
2008 | Fukamachi, S., Kinoshita, M., Tsujimura, T., Shimada, A., Oda, S., Shima, A., Meyer, A., Kawamura, S., Mitani, H. : |
Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoter. Genetics 178:761-9, 2008. Pubmed reference: 18245373. DOI: 10.1534/genetics.107.073387. | |
2001 | Fukamachi, S., Shimada, A., Shima, A. : |
Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka. Nat Genet 28:381-5, 2001. Pubmed reference: 11479596. DOI: 10.1038/ng584. |
Edit History
- Created by Frank Nicholas on 09 Jun 2013
- Changed by Frank Nicholas on 09 Jun 2013
- Changed by Frank Nicholas on 21 Jun 2013