OMIA:000202-89462 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Bubalus bubalis (water buffalo)

In other species: Japanese medaka , 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 , 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

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2012

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: By sequencing a very likely comparative candidate gene (based on the homologous disorder in numerous other species), Damé et al. (2012) identified the causal mutation in the water buffalo tyrosinase gene as being "a single-base substitution was detected at nucleotide 1,431 (G to A), which leads to the conversion of tryptophan into a stop codon at residue 477".

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 tyrosinase Bubalus bubalis 5 NC_059161.1 (86963873..86853089) 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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
329 Albinism TYR nonsense (stop-gain) Naturally occurring variant c.1431G>A p.(W477*) 2012 22817390

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2012). OMIA:000202-89462: 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.

2012 Damé, M.C., Xavier, G.M., Oliveira-Filho, J.P., Borges, A.S., Oliveira, H.N., Riet-Correa, F., Schild, A.L. :
A nonsense mutation in the tyrosinase gene causes albinism in water buffalo. BMC Genet 13:62, 2012. Pubmed reference: 22817390. DOI: 10.1186/1471-2156-13-62.
2010 Marcolongo-Pereira, C., Schild, A.L., Soares, M.P., Vargas, S.F., Riet-Correa, F. :
Congenital defects in ruminants in southern Brazil Pesq Vet Bras 30:816-826, 2010.
2005 Coban, O., Yildiz, A. :
Albinism in an anatolian buffalo calf Journal of Applied Animal Research 27:61-62, 2005.
1925 Levine, C.O. :
Albino water buffaloes Journal of Heredity 16:66 only, 1925.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 19 Oct 2011
  • Changed by Frank Nicholas on 17 Oct 2012