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

In other species: dark-spotted frog , Japanese wrinkled frog , Tufted capuchin , Rhesus monkey , hamadryas baboon , dog , red fox , domestic ferret , domestic cat , lion , humpback whale , ass (donkey) , pig , red deer , American bison , taurine cattle , rabbit , golden hamster , Mongolian gerbil , domestic guinea pig , Japanese ratsnake , water buffalo , four-striped grass mouse , ocelot gecko , American mink , Japanese raccoon dog , Rice frog

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 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 symbol: i1, i4

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. Koga et al. (1996) report a second insertion of a 4.7 kb transposable element (Tol2-tyr) in the fifth exon of tyr causing the quasi-albino phenotype i4.

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.

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
723 Skin colour, albinism tyr i1 insertion, gross (>20) Naturally occurring variant 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
1554 Skin colour, albino (quasi-albino) tyr i4 insertion, gross (>20) Naturally occurring variant a 4.7-kb insertion in exon 5 (Tol2-tyr) 1996 8779712
1555 Skin colour, albino (weak) tyr i(b) insertion, gross (>20) Naturally occurring variant a 4.7-kb insertion in the 5' untranslated region (Tol2) 2004 15016305

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000202-8090: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.
1996 Koga, A., Suzuki, M., Inagaki, H., Bessho, Y., Hori, H. :
Transposable element in fish. Nature 383:30, 1996. Pubmed reference: 8779712. DOI: 10.1038/383030a0.
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
  • Changed by Imke Tammen2 on 16 May 2023