OMIA 000202-8409 : Coat colour, albinism in Pelophylax nigromaculatus

In other species: domestic cat , cattle , dog , rabbit , sheep , Sumatran tiger , western chorus frog , grass carp , golden hamster , gray short-tailed opossum , raccoon , meadow voles , water buffalo , Arizona pocket mouse , nutria , eastern chipmunk , rufous rat-kangaroo , hippopotamus , hares , northern pocket gopher , North American deer mouse , ass , Japanese medaka , rainbow trout , brown bear , American mink , grivet , goldfish , Campbell's desert hamster , humpback whale , axolotl , African clawed frog , turkey vulture , American black bear , domestic ferret , pig , domestic guinea pig , Tufted capuchin , Japanese wrinkled frog , Rice frog , Bornean orangutan , lion

Possibly relevant human trait(s) and/or gene(s) (MIM number): 203100

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2017

Cross-species summary: Congenital lack of pigment in all parts of the body. Due to a non-functional form of the enzyme tyrosinase. Also known as Oculocutaneous albinism (OCA)

Molecular basis: Miura et al. (2017) reported three likely causal variants: c.1244_1245insT; c.768_769insT; c.682_684del3 (p.228delLys)

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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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
Albinism TYR insertion, small (<=20) c.1244_1245insT 2017 28674275
Albinism TYR deletion, small (<=20) c.682_684del p.228delLys 2017 28674275
Albinism TYR insertion, small (<=20) c.768_769insT 2017 28674275

Reference


2017 Miura, I., Tagami, M., Fujitani, T., Ogata, M. :
Spontaneous tyrosinase mutations identified in albinos of three wild frog species. Genes Genet Syst :, 2017. Pubmed reference: 28674275. DOI: 10.1266/ggs.16-00061.

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  • Created by Frank Nicholas on 04 Sep 2017