OMIA:000202-8409 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Pelophylax nigromaculatus (dark-spotted frog)

In other species: Japanese medaka , 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

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

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2018

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

Molecular basis: Miura et al. (2018) reported three likely causal variants: c.1244_1245insT; c.768_769insT; c.682_684del3 (p.228delLys), each giving rise to an alleles for albinism.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYR Pelophylax nigromaculatus - no genomic information (-..-) TYR Ensembl

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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
814 Albinism TYR insertion, small (<=20) Naturally occurring variant c.1244_1245insT 2018 28674275
816 Albinism TYR deletion, small (<=20) Naturally occurring variant c.682_684del p.(L228del) 2018 28674275
815 Albinism TYR insertion, small (<=20) Naturally occurring variant c.768_769insT 2018 28674275

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:000202-8409: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2018 Miura, I., Tagami, M., Fujitani, T., Ogata, M. :
Spontaneous tyrosinase mutations identified in albinos of three wild frog species. Genes Genet Syst 92:189-196, 2018. Pubmed reference: 28674275. DOI: 10.1266/ggs.16-00061.

Edit History


  • Created by Frank Nicholas on 04 Sep 2017
  • Changed by Frank Nicholas on 31 Mar 2020