OMIA:000214-9913 : Coat colour, white spotting in Bos taurus (taurine cattle)

In other species: dog , domestic cat , horse , llama , domestic guinea pig , water buffalo

Categories: Pigmentation phene , Hearing / vestibular / ear phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 193510 (trait) , 103500 (trait) , 156845 (gene)

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2012

Cross-species summary: Variable degree of white spotting ranging from tiny white spots up to completely white animals. The absence of pigment is caused by the absence of skin melanocytes ("leucism, leucistic"), not by failure in the biochemical reactions required for pigment synthesis.

Molecular basis: Fontanesi et al. (2012) reported a strong association between an intronic MITF variant and spotted vs non-spotted Italian Holstein and Italian Simmental cattle, explaining that "Variability in the MITF gene clearly explained the differences between spotted and non-spotted phenotypes but, at the same time, it is evident that this gene is not the only genetic factor determining piebaldism in Italian Holstein and Italian Simmental cattle breeds." Hofstetter et al. (2019) "hypothesize[d] that rs722765315 [variant g.31908435G>A in MITF] represents the most likely causative variant for the white-spotting phenotype observed in Brown Swiss cattle. Presence of the mutant allele in a heterozygous or homozygous state supports a dominant mode of inheritance with incomplete penetrance and results in a variable extent of coat colour depigmentation." From "the largest GWAS of white spotting to date", conducted on New Zealand cattle (Jersey, Holstein-Friesian and their cross), Jivinji et a. (2019) "extend[ed] those [results] of previous studies that reported KIT as a likely causal gene for white spotting, and report novel associations between candidate causal mutations in both the MITF and PAX3 genes."

Breeds: Brown Swiss (Cattle) (VBO_0000166), Holstein (black and white) (Cattle) (VBO_0000237), Holstein Friesian (Cattle) (VBO_0000239), Jersey (Cattle) (VBO_0000250), Mishima, Japan (Cattle) (VBO_0004993), Simmental (Cattle) (VBO_0000380).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated genes:

Symbol Description Species Chr Location OMIA gene details page Other Links
MITF microphthalmia-associated transcription factor Bos taurus 22 NC_037349.1 (31843489..31614654) MITF Homologene, Ensembl , NCBI gene
PAX3 paired box 3 Bos taurus 2 NC_037329.1 (110471351..110369552) PAX3 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
782 Holstein (black and white) (Cattle) Simmental (Cattle) White spotting MITF regulatory Naturally occurring variant ARS-UCD1.2 22 g.31650821T>A c.33+112A>T UMD3.1 position is g.31769189 rs210634530 2012 22486495 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.
1018 Brown Swiss (Cattle) White spotting MITF regulatory Naturally occurring variant ARS-UCD1.2 22 g.31790063G>A c.104+53185C>T FN 190425: The Ensembl entry for rs722765315 lists two transcripts: ENSBTAT00000067269.1:c.104+53185C>T and ENSBTAT00000076082.1:c.-53+31498C>T rs722765315 2019 30506810 The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000214-9913: 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.

2023 Shibutani, S., Endo, M., Mizukami, K., Hosoi, E., Sakai, Y., Taniguchi, M., Harada, H., Momozawa, Y., Iwata, H. :
Development of a high-throughput screening method for the detection of 188 pathogenic variants and its application in Mishima cattle. Anim Genet 54:416-417, 2023. Pubmed reference: 36785519. DOI: 10.1111/age.13301.
2019 Hofstetter, S., Seefried, F., Häfliger, I.M., Jagannathan, V., Leeb, T., Drögemüller, C., Hofstetter, S., Seefried, F., Häfliger, I.M., Jagannathan, V., Leeb, T., Drögemüller, C. :
A non-coding regulatory variant in the 5'-region of the MITF gene is associated with white-spotted coat in Brown Swiss cattle. Anim Genet 50:27-32, 2019. Pubmed reference: 30506810. DOI: 10.1111/age.12751.
Jivanji, S., Worth, G., Lopdell, T.J., Yeates, A., Couldrey, C., Reynolds, E., Tiplady, K., McNaughton, L., Johnson, T.J.J., Davis, S.R., Harris, B., Spelman, R., Snell, R.G., Garrick, D., Littlejohn, M.D. :
Genome-wide association analysis reveals QTL and candidate mutations involved in white spotting in cattle. Genet Sel Evol 51:62, 2019. Pubmed reference: 31703548. DOI: 10.1186/s12711-019-0506-2.
2013 Jansen, S., Aigner, B., Pausch, H., Wysocki, M., Eck, S., Benet-Pagès, A., Graf, E., Wieland, T., Strom, T.M., Meitinger, T., Fries, R. :
Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage. BMC Genomics 14:446, 2013. Pubmed reference: 23826801. DOI: 10.1186/1471-2164-14-446.
2012 Fontanesi, L., Scotti, E., Russo, V. :
Haplotype variability in the bovine MITF gene and association with piebaldism in Holstein and Simmental cattle breeds. Anim Genet 43:250-6, 2012. Pubmed reference: 22486495. DOI: 10.1111/j.1365-2052.2011.02242.x.
2010 Hayes, B.J., Pryce, J., Chamberlain, A.J., Bowman, P.J., Goddard, M.E. :
Genetic architecture of complex traits and accuracy of genomic prediction: coat colour, milk-fat percentage, and type in Holstein cattle as contrasting model traits. PLoS Genet 6:e1001139, 2010. Pubmed reference: 20927186. DOI: 10.1371/journal.pgen.1001139.
2009 Liu, L., Harris, B., Keehan, M., Zhang, Y. :
Genome scan for the degree of white spotting in dairy cattle. Anim Genet 40:975-7, 2009. Pubmed reference: 19531114. DOI: 10.1111/j.1365-2052.2009.01936.x.
1990 Pape, H. :
The inheritance of the piebald spotting pattern and its variation in Holstein-Friesian cattle and in Landseer-Newfoundland dogs. Genetica 80:115-28, 1990. Pubmed reference: 2323567. DOI: 10.1007/BF00127132.

Edit History

  • Created by Frank Nicholas on 13 Oct 2010
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 25 Jan 2019
  • Changed by Frank Nicholas on 26 Mar 2019
  • Changed by Frank Nicholas on 18 Nov 2019
  • Changed by Frank Nicholas on 19 Feb 2020
  • Changed by Imke Tammen2 on 01 Jul 2021
  • Changed by Imke Tammen2 on 17 Feb 2023