OMIA 001821-8090 : Coat colour, albinism, oculocutaneous type IV in Oryzias latipes |
In other species:
western gorilla
,
dog
,
cattle
Possibly relevant human trait(s) and/or gene(s) (MIM number):
606574
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
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
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Coat colour, albinism, oculocutaneous type IV | slc45a2 | complex rearrangement | an inversion of 167 bp, an insertion of 48 bp, and a deletion of 172 bp | 2008 | 18245373 |
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