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. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

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