OMIA 000202-8090 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Oryzias latipes

In other species: domestic cat , cattle , dog , rabbit , water buffalo , ass , American mink , humpback whale , domestic ferret , pig , domestic guinea pig , Tufted capuchin , dark-spotted frog , Japanese wrinkled frog , Rice frog , lion , Mongolian gerbil , red fox , hamadryas baboon , red deer , Japanese raccoon dog , Japanese ratsnake

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 203100 (trait) , 606952 (trait) , 606933 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1995

Cross-species summary: Congenital lack of pigment in most parts of the body. Due to a non-functional form of the enzyme tyrosinase. Also known as Oculocutaneous albinism (OCA), Acromelanism and as the Himalayan coat-colour pattern

Species-specific description: This is an example of an insertion mutation: a 1.9 kb fragment, corresponding to a novel transposable element (Tol1), has been inserted in exon 1 of the gene for tyrosinase (Koga et al., 1995). Homozygotes for this mutant allele have amelanotic skin and red eyes.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
tyr tyrosinase Oryzias latipes 13 NC_019871.2 (21695045..21701515) tyr Homologene, Ensembl, NCBI gene


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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
Coat colour, albinism tyr insertion, gross (>20) a 1.9 kb fragment, corresponding to a novel transposable element (Tol1), has been inserted in exon 1 of the gene for tyrosinase 1995 8552044


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.
2006 Tsutsumi, M., Imai, S., Kyono-Hamaguchi, Y., Hamaguchi, S., Koga, A., Hori, H. :
Color reversion of the albino medaka fish associated with spontaneous somatic excision of the Tol-1 transposable element from the tyrosinase gene. Pigment Cell Res 19:243-7, 2006. Pubmed reference: 16704459. DOI: 10.1111/j.1600-0749.2006.00300.x.
2005 Iida, A., Takamatsu, N., Hori, H., Wakamatsu, Y., Shimada, A., Shima, A., Koga, A. :
Reversion mutation of ib oculocutaneous albinism to wild-type pigmentation in medaka fish. Pigment Cell Res 18:382-4, 2005. Pubmed reference: 16162178. DOI: 10.1111/j.1600-0749.2005.00247.x.
2004 Fukamachi, S., Asakawa, S., Wakamatsu, Y., Shimizu, N., Mitani, H., Shima, A. :
Conserved function of medaka pink-eyed dilution in melanin synthesis and its divergent transcriptional regulation in gonads among vertebrates. Genetics 168:1519-27, 2004. Pubmed reference: 15579703. DOI: 10.1534/genetics.104.030494.
Iida, A., Inagaki, H., Suzuki, M., Wakamatsu, Y., Hori, H., Koga, A. :
The tyrosinase gene of the i(b) albino mutant of the medaka fish carries a transposable element insertion in the promoter region. Pigment Cell Res 17:158-64, 2004. Pubmed reference: 15016305. DOI: 10.1046/j.1600-0749.2003.00122.x.
2000 Fu, L., Mambrini, M., Perrot, E., Chourrout, D. :
Stable and full rescue of the pigmentation in a medaka albino mutant by transfer of a 17 kb genomic clone containing the medaka tyrosinase gene. Gene 241:205-11, 2000. Pubmed reference: 10675031.
1999 Koga, A., Wakamatsu, Y., Kurosawa, J., Hori, H. :
Oculocutaneous albinism in the i(6) mutant of the medaka fish is associated with a deletion in the tyrosinase gene Pigment Cell Research 12:252-258, 1999. Pubmed reference: 10454293.
1998 Hori, H., Suzuki, M., Inagaki, H., Oshima, T., Koga, A. :
An active Ac-like transposable element in teleost fish. J Mar Biotechnol 6:206-207, 1998. Pubmed reference: 9852611.
Inagaki, H., Koga, A., Bessho, Y., Hori, H. :
The tyrosinase gene from medakafish: Transgenic expression rescues albino mutation Pigment Cell Research 11:283-290, 1998. Pubmed reference: 9877099.
1997 Koga, A., Hori, H. :
Albinism due to transposable element insertion in fish Pigment Cell Research 10:377-381, 1997. Pubmed reference: 9428004.
1995 Koga, A., Inagaki, H., Bessho, Y., Hori, H. :
Insertion of a novel transposable element in the tyrosinase gene is responsible for an albino mutation in the medaka fish, oryzias latipes Molecular & General Genetics 249:400-405, 1995. Pubmed reference: 8552044.

Edit History

  • Created by Frank Nicholas on 12 Sep 2005
  • Changed by Frank Nicholas on 15 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011