OMIA 000209-9796 : Coat colour, dominant white in Equus caballus

In other species: rabbit , pig , cattle , dog , domestic cat , llama , alpaca , Arctic fox , ass , raccoon dog , domestic yak , goat

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 172800 (trait) , 164920 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2005

Cross-species summary: The dominant white gene is one of a number of genes that regulate normal growth and proliferation of cells. In fact, it encodes a protein that protrudes through the cell membrane, relaying 'messages' across the membrane, from outside to inside the cell. The transmembrane domain of the protein is a receptor for a growth factor (a protein produced by one type of cell, that acts on another type of cell). The domain inside the cell has tyrosine kinase activity. When a growth factor binds to the receptor on the outside of the cell, this stimulates tyrosine kinase activity inside the cell, which sets off a cascade of phosphorylations, resulting in activation of transcription factors, which in turn activate genes, resulting in multiplication of stem cells, including melanocyte precursor cells, in the developing embryo. This whole process is known as a signal transduction pathway. During embryonic development, the melanosome precursor cells migrate from the neural crest down either side of the body. Under normal circumstances, they eventually meet at the centre of the belly. The cells then proliferate in all directions until they meeting neighbouring cells, thereby filling up all available areas, resulting in a solid mass of melanocytes over the entire body. The dominant white allele produces a defective transmembrane protein which is unable to relay 'messages', resulting in a lack of melanocytes, and hence white coat colour. An interesting aspect of the dominant white gene is that if it is activated at the wrong time, the result can be excess and uncontrolled proliferation of stem cells; in other words, cancer. In fact, at some time in the past, a feline retrovirus (the Hardy-Zuckerman 4 feline sarcoma virus) 'picked up' (by transduction) a copy of the dominant white gene from a cat, and incorporated this gene into its own genome. When this retrovirus infects cats, it activates its own copy of the gene at inappropriate times, causing sarcoma - a malignant tumour of cells derived from connective tissue. Retroviral genes that cause cancer are called oncogenes. The original host version of an oncogene is called a proto-oncogene. Thus, the dominant white gene is actually a proto-oncogene. In this particular case, the oncogene was discovered and named v-kit (where 'v' indicates a viral version of the gene) long before its association with white coat colour was established. The corresponding proto-oncogene is called c-kit, where 'c' stands for cellular. After the discovery and cloning of v-kit in the feline retrovirus by Besmer et al. (1986; Nature 320:415-421), c-kit was identified and mapped first in humans, by Mattei et al. (1987; Cytogenetics and Cell Genetics 46:657 only), and then in mice (Chabot et al., 1988; Nature 335:88-89, 1988), where it was shown to be identical with the long-recognised white-spotting (W) locus. Three years later, Giebel and Spritz (1991; Proceedings of the National Academy of Sciences 88:8696-8699) showed that mutations at the c-kit gene in humans cause piebaldism, which is the human homologue of white spotting (see the MIM entry at the top of this page)

Species-specific name: Tobiano, Sabino

Mapping: Mau et al. (2004) mapped this trait to a region of chromosome ECA3 containing the KIT gene.

Markers: From a study of 1054 American Paint horses registered with the American Paint Horse Association (APHA), Brooks et al. (2020 reported that "The W20 allele within the KIT gene, independent of other known spotting alleles, was strongly associated with the APHA-defined white-spotting phenotype (P = 1.86 × 10-18 ), refuting reports that W20 acts only as a modifier of other underlying white-spotting patterns."

Molecular basis: Using the comparative candidate-gene strategy (based on the KIT gene being associated with similar coat-colour-phenotypes in humans and pigs), Brooks and Bailey (2005) sequenced the KIT gene in horses of each of the three genotypes at a Sabino-spotting locus they called Sabino 1, and identified a splice variant, namely "a base substitution for T with A in intron 16, 1037 bases following exon 16" that results in the skipping of exon 17 and which was entirely associated with the SB1 allele. Homozygosity for this allele "results in a complete or nearly completely white phenotype". Haase et al. (2007) showed that the dominant white coat colour is due to a range of mutations in the KIT gene across a range of breeds. Brooks et al. (2007) showed that the tobiano pattern is due to a large paracentric inversion that begins just downstream of the KIT gene. In the words of Brooks et al. (2007), the "inversion may disrupt regulatory sequences for the KIT gene and cause the white spotting pattern". Haase et al. (2008) showed that the same inversion is the cause of this coat colour in a range of German horse breeds, indicating that it is an old mutation. Additional KIT mutations associated with white or white spotting have been reported by Haase et al. (2009), Holl et al. (2010), Haase et al. (2011) and Hauswirth et al. (2013). To help keep track of the large number of apparently functional mutations, Haase et al. (2009) proposed a KIT-allele naming system (W1, . . . , W11) for the 11 mutants then recognised. The new allele reported by Holl et al. (2010) is W12. Haase et al. (2011) reported new alleles W13-W17. The three new alleles reported by Hauswirth et al. (2013) are named W18, W19, and W20. Another new allele, W21, was reported by Haase et al. (2015). W22 was reported by Dürig et al. (2017) and W23 by Holl et al. (2017), who also provided the first report of a viable W15 homozygote, which was completely white, the first such reported case of viable homozygosity for any W allele.

Negro et al. (2017): "a missense mutation (p.Arg682His) in KIT [= allele W20] was associated with white facial markings (P < 0.05) and with total white markings (P < 0.05) in PRMe horses. The relative contribution of this variant to white markings in PRMe horses was estimated at 47.6% (head) and 43.4% (total score). In PRE horses, this variant was also associated with hindlimb scores (P < 0.05) with a relative contribution of 41.2%."

Capomaccio et al. (2017) reported a de novo likely causal (splicing) variant (NC_009146.2:g.77736559C>T, called allele W24) in a white Italian Trotter born to two non-white (bay) parents.

Hoban et al. (2018) reported three new likely causal variants, which they designated "W25 (p.Leu223Pro) [in a Thoroughbred family], W26 (p.Ser846Valfs*15) [in the same Thoroughbred family] and W27 (p.Cys491Trp) [in a second Thoroughbred family]". These authors also identified variant W13 in a Miniature Horse family.

Hug et al. (2019) reported a "1273‐bp deletion spanning parts of intron 2 and exon 3 of the equine KIT gene" as the likely causal variant for "a German Riding Pony with white‐spotting coat colour phenotype" very similar to that attributed to allele W22 (see above). The authors designated this newly-reported variant as W28.

Table S1 of Hug et al. (2019) provides details of all KIT alleles (plus alleles at PAX3, MITF and EDNRB) known in June 2019.

Martin et al. (2020) reported that "extensive coat white patterning in a family of Berber horses" is due to "a single missense mutation (g.79548244, c.2020T>A; p.L674H) at the site of the second W17 variant. We propose to designate this variant as W30."

Patterson Rosa et al. (2021) “performed a candidate-gene exon sequencing approach on KIT and MITF … within 2 families of horses of unknown white spotting. Family 1 (Fam1, N = 5) consisted of a Quarter Horse stallion and 4 offspring with white spotting pattern ranging from legs, lower ventral, and head regions with jagged borders, to almost complete white. The second family (Fam2, N = 7) consisted of 6 half-sibling American Paint Horse/Quarter Horse and their dam, demonstrating unpigmented limbs with belly spots and an extensive white patterning on the face. … This approach resulted in 2 variants significantly associated with familial phenotypes, where Fam1 variant is an indel leading to a frameshift mutation [= allele W31], and Fam2 a non-synonymous SNP [= allele W32]. … W32, may have a subtle impact on receptor function or could be in linkage with a non-coding or regulatory change creating the mild spotting pattern observed in this family.”

Esdaile et al. (2021): "Screening 19 unregistered all-white Shetland ponies for 16 white patterning markers identified 14 individuals whose phenotype could not be explained by testing results. In evaluating other known dominant white variants, 14 horses were heterozygous for W13. ... Genotyping known white spotting variants in 30 owner-reported white animals (25 Miniature Horses and five Shetland ponies) identified two additional W13/N American Miniature Horses. No homozygous W13 individuals were identified and W13/N ponies had a similar all-white coat with pink skin phenotype, regardless of the other white spotting variants present, demonstrating that W13 results in a Mendelian inherited dominant white phenotype and homozygosity is likely lethal."

Esdaile et al. (2022) reported "KIT:c.2783A>T as a causal de novo variant for the sabino-like pattern of a Standardbred", naming this variant as W33.

Prevalence: Druml et al. (2018) reported that the SB1 variant is "present in three breeds (Haflinger, 14 out of 98; Noriker, four out of 189; Lipizzan one out of 329) . . . None of the SB1/sb1-carrier horses met the criteria defining the Sabino1 pattern according to current applied protocols."

Esdaile et al. (2021): "The estimated allele frequency of W13 in the American Miniature Horse was 0.0063 (79 N/N, 1 W13/N) and the allele was not detected in a random sample (n = 59) of Shetland ponies." In the same study 14 out of 19 all-white unregistered Shetland ponies were heterozygous for the W13 variant.

Breeds: American Paint Horse, Appaloosa, Arabian, Berber, Camarillo White Horse, Franches-Montagnes, German Riding Pony, Gypsy, Haflinger, Holsteiner, Icelandic, Italian Trotter, Japanese Draft, Lipizzan, Miniature Horse, Noriker, Old-Tori, Oldenburger, Quarter Horse, Shetland Pony, South German Draft, Swiss Warmblood, Thoroughbred, Welsh Pony.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog Equus caballus 3 NC_009146.3 (79618685..79536564) KIT Homologene, Ensembl, NCBI gene

Variants

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
1331 American Paint Horse Quarter Horse White spotting KIT W32 missense Naturally occurring variant EquCab3.0 3 g.79538738C>T c.3214G>A p.(A1072T) cDNA position based on transcript ENSECAT00000014037.3 rs1141982296 rs1141982296 2021 34223905
882 South German Draft Coat colour, dominant white KIT W11 splicing Naturally occurring variant EquCab3.0 3 g.79540429C>T c.2684+1G>A 2009 19456317 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
939 Thoroughbred Coat colour, dominant white KIT W26 deletion, small (<=20) Naturally occurring variant EquCab3.0 3 g.79540694del c.2536del p.(S846Vfs*15) NM_001163866.1; NP_001157338.1; published as c.2536delA 2018 29333746
873 Oldenburger Coat colour, dominant white KIT W16 missense Naturally occurring variant EquCab3.0 3 g.79540741T>A c.2489A>T p.(K830I) 2011 21554354 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
883 Miniature Horse Quarter Horse Shetland Pony Coat colour, dominant white KIT W13 splicing Naturally occurring variant EquCab3.0 3 g.79544066C>G c.2472+5G>C 2011 21554354 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
889 Thoroughbred Coat colour, dominant white KIT W14 deletion, gross (>20) Naturally occurring variant EquCab3.0 3 g.79544151_79544204del c.2392_2445del p.(H798_N815del) 2011 21554354 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
891 Icelandic White spotting KIT W21 deletion, small (<=20) Naturally occurring variant EquCab3.0 3 g.79544174del c.2369delC p.(A790Efs*20) 2015 26059442 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
885 Appaloosa Haflinger Lipizzan Noriker Quarter Horse Coat colour, dominant white KIT sabino 1 (SB1) splicing Naturally occurring variant EquCab3.0 3 g.79544206A>T "SNP AX-103727726 (ECA3:77735520; SB1, SNP KI16+1037A)" (Druml et al., 2018) 2005 16284805 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
893 Italian Trotter Coat colour, dominant white KIT W24 splicing Naturally occurring variant EquCab3.0 3 g.79545245C>T 2017 28856698
1462 Standardbred Dominant white spotting KIT W33 missense Naturally occurring variant EquCab3.0 3 g.79545248T>A c.2783A>T p.(N895Y) NC_009146.3; ENSECAT00000014037.3 2022 35641888
881 Icelandic Coat colour, dominant white KIT W8 splicing Naturally occurring variant EquCab3.0 3 g.79545374C>T c.2222-1G>A NM_001163866.1; NP_001157338.1 2009 19456317
886 Thoroughbred Coat colour, dominant white KIT W5 deletion, small (<=20) Naturally occurring variant EquCab3.0 3 g.79545900del c.2193delG p.(T732Qfs*9) 2009 19456317 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
878 Franches-Montagnes Coat colour, dominant white KIT W1 nonsense (stop-gain) Naturally occurring variant EquCab3.0 3 g.79545942G>C c.2151C>G p.(Y717*) 2007 17997609 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
877 American Paint Horse Appaloosa German Riding Pony Gipsy Noriker Old-Tori Oldenburger Quarter Horse Thoroughbred Welsh Pony Coat colour, dominant white KIT W20 missense Naturally occurring variant EquCab3.0 3 g.79548220C>T c.2045G>A p.(R682H) ENSECAT00000014037.3:c.2381A>G ENSECAP00000011188.2:p.His794Arg rs1143160924 rs1143160924 2013 23659293 Variant coordinates initially gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
875 Japanese Draft Coat colour, dominant white KIT W17b missense Naturally occurring variant EquCab3.0 3 g.79548244A>G c.2021T>C p.(L674P) 2011 21554354 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
1261 Berber Extensive coat white patterning KIT W30 missense Naturally occurring variant EquCab3.0 3 g.79548244A>T c.2020T>A p.(L674H) g.79548244, c.2020T>A; p.L674H (Martin et al., 2020) 2020 33111383
874 Japanese Draft Coat colour, dominant white KIT w17a missense Naturally occurring variant EquCab3.0 3 g.79548265T>A c.2001A>T p.(E667D) 2011 21554354 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
890 Thoroughbred White spotting KIT W22 deletion, gross (>20) Naturally occurring variant EquCab3.0 3 g.79548925_79550822del 1898bp deletion 2017 28444912
868 Thoroughbred Coat colour, dominant white KIT W2 missense Naturally occurring variant EquCab3.0 3 g.79549540C>T c.1960G>A p.(G654R) 2007 17997609 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
869 Camarillo White Horse Coat colour, dominant white KIT W4 missense Naturally occurring variant EquCab3.0 3 g.79549780G>A c.1805C>T p.(A602V) 2007 17997609 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
871 Holsteiner Coat colour, dominant white KIT W9 missense Naturally occurring variant EquCab3.0 3 g.79549797C>T c.1789G>A p.(G597R) 2009 19456317 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
872 Arabian Coat colour, dominant white KIT W15 missense Naturally occurring variant EquCab3.0 3 g.79550351A>G c.1597T>C p.(C533R) 2011 21554354 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
940 Thoroughbred Coat colour, dominant white KIT W27 missense Naturally occurring variant EquCab3.0 3 g.79551937A>C c.1473T>G p.(C491W) NM_001163866.1; NP_001157338.1 2018 29333746
884 Swiss Warmblood Coat colour, dominant white KIT W18 splicing Naturally occurring variant EquCab3.0 3 g.79553751C>T c.1346+1G>A 2013 23659293 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
876 Arabian Coat colour, dominant white KIT W19 missense Naturally occurring variant EquCab3.0 3 g.79553776T>C c.1322A>G p.(Y441C) 2013 23659293 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
887 Quarter Horse Coat colour, dominant white KIT W10 deletion, small (<=20) Naturally occurring variant EquCab3.0 3 g.79566926_79566929del c.1126_1129delGAAC p.(E376Ffs*3) 2009 19456317 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
870 Thoroughbred Coat colour, dominant white KIT W6 missense Naturally occurring variant EquCab3.0 3 g.79573754C>T c.856G>A p.(G286R) 2009 19456317 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
892 Arabian White spotting KIT W23 splicing Naturally occurring variant EquCab3.0 3 g.79578484C>G c.756+1G>C rs1095048836 rs1095048836 2017 28378922
879 Arabian Coat colour, dominant white KIT W3 nonsense (stop-gain) Naturally occurring variant EquCab3.0 3 g.79578535T>A c.706A>T p.(K236*) 2007 17997609 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
938 Thoroughbred Coat colour, dominant white KIT W25 missense Naturally occurring variant EquCab3.0 3 g.79578573A>G c.668T>C p.(L223P) NM_001163866.1; NP_001157338.1 rs3103992630 2018 29333746
888 Thoroughbred Coat colour, dominant white KIT W12 deletion, small (<=20) Naturally occurring variant EquCab3.0 3 g.79579774_79579778del c.559_563delTCTGC p.(S187Rfs*10) 2010 Reference not in PubMed; see OMIA 000209-9796 for reference details Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
1091 German Riding Pony White spotting KIT W28 deletion, gross (>20) Naturally occurring variant EquCab3.0 3 g.79579925_79581197del 2019 31463981
880 Thoroughbred Coat colour, dominant white KIT W7 splicing Naturally occurring variant EquCab3.0 3 g.79580000C>G c.338-1G>C 2009 19456317 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
1330 Quarter Horse White spotting KIT W31 insertion, small (<=20) Naturally occurring variant EquCab3.0 3 g.79618532_79618533insA c.30_31insT p.(L11Sfs*115) 2021 34223905

References


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.
2022 Esdaile, E., Till, B., Kallenberg, A., Fremeux, M., Bickel, L., Bellone, R.R. :
A de novo missense mutation in KIT is responsible for dominant white spotting phenotype in a Standardbred horse. Anim Genet :, 2022. Pubmed reference: 35641888. DOI: 10.1111/age.13222.
2021 Esdaile, E., Kallenberg, A., Avila, F., Bellone, R.R. :
Identification of W13 in the American Miniature Horse and Shetland Pony Populations. Genes (Basel) 12:1985, 2021. Pubmed reference: 34946933. DOI: 10.3390/genes12121985.
Patterson Rosa, L., Martin, K., Vierra, M., Foster, G., Lundquist, E., Brooks, S.A., Lafayette, C. :
Two variants of KIT causing white patterning in stock-type horses. J Hered 112:447-451, 2021. Pubmed reference: 34223905. DOI: 10.1093/jhered/esab033.
2020 Brooks, S.A., Palermo, K.M., Kahn, A., Hein, J. :
Impact of white-spotting alleles, including W20, on phenotype in the American Paint Horse. Anim Genet 51:707-715, 2020. Pubmed reference: 32686191. DOI: 10.1111/age.12960.
Martin, K., Patterson Rosa, L., Vierra, M., Foster, G., Brooks, S.A., Lafayette, C. :
De novo mutation of KIT causes extensive coat white patterning in a family of Berber horses. Anim Genet 52:135-137, 2020. Pubmed reference: 33111383. DOI: 10.1111/age.13017.
2019 Hug, P., Jude, R., Henkel, J., Jagannathan, V., Leeb, T. :
A novel KIT deletion variant in a German Riding Pony with white-spotting coat colour phenotype. Anim Genet 50:761-763, 2019. Pubmed reference: 31463981. DOI: 10.1111/age.12840.
2018 Druml, T., Grilz-Seger, G., Neuditschko, M., Horna, M., Ricard, A., Pausch, H., Brem, G. :
Novel insights into Sabino1 and splashed white coat color patterns in horses. Anim Genet 49:249-253, 2018. Pubmed reference: 29635692. DOI: 10.1111/age.12657.
Hoban, R., Castle, K., Hamilton, N., Haase, B. :
Novel KIT variants for dominant white in the Australian horse population. Anim Genet 49:99-100, 2018. Pubmed reference: 29333746. DOI: 10.1111/age.12627.
Li, B., He, X., Zhao, Y., Bai, D., Shiraigo, W., Zhao, Q., Manglai, D. :
Regulatory pathway analysis of coat color genes in Mongolian horses. Hereditas 155:13, 2018. Pubmed reference: 28974924. DOI: 10.1186/s41065-017-0048-y.
2017 Capomaccio, S., Milanesi, M., Nocelli, C., Giontella, A., Verini-Supplizi, A., Branca, M., Silvestrelli, M., Cappelli, K. :
Splicing site disruption in the KIT gene as strong candidate for white dominant phenotype in an Italian Trotter. Anim Genet 48:727-728, 2017. Pubmed reference: 28856698. DOI: 10.1111/age.12590.
Dürig, N., Jude, R., Holl, H., Brooks, S.A., Lafayette, C., Jagannathan, V., Leeb, T. :
Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotted coat colour phenotypes. Anim Genet 48:483-485, 2017. Pubmed reference: 28444912. DOI: 10.1111/age.12556.
Holl, H.M., Brooks, S.A., Carpenter, M.L., Bustamante, C.D., Lafayette, C. :
A novel splice mutation within equine KIT and the W15 allele in the homozygous state lead to all white coat color phenotypes. Anim Genet 48:497-498, 2017. Pubmed reference: 28378922. DOI: 10.1111/age.12554.
Kim, N.Y., Bhuiyan, M.S.A., Chae, H.S., Baek, K.S., Son, J.K., Shin, S.M., Woo, J.H., Park, S.H., Lee, S.H. :
Genome-wide association study for tobiano spotting coat color in Korean Jeju × Thoroughbred horse population. Anim Genet 48:728-729, 2017. Pubmed reference: 28850680. DOI: 10.1111/age.12596.
Negro, S., Imsland, F., Valera, M., Molina, A., Solé, M., Andersson, L. :
Association analysis of KIT, MITF, and PAX3 variants with white markings in Spanish horses. Anim Genet 48:349-352, 2017. Pubmed reference: 28084638. DOI: 10.1111/age.12528.
2016 Han, H., Mao, C., Chen, N., Lan, X., Chen, H., Lei, C., Dang, R. :
Single nucleotide polymorphisms of Kit gene in Chinese indigenous horses. Jpn J Vet Res 64:81-9, 2016. Pubmed reference: 27348891.
Martin, L., Damaso, N., Mills, D., Martin, L., Damaso, N., Mills, D. :
Detection of single nucleotide polymorphisms (SNP) in equine coat color genes using SNaPshotTM multiplex kit or pluronic F-108 tri-block copolymer and capillary electrophoresis. Electrophoresis 37:2862-2866, 2016. Pubmed reference: 27542347. DOI: 10.1002/elps.201600245.
Reissmann, M., Musa, L., Zakizadeh, S., Ludwig, A. :
Distribution of coat-color-associated alleles in the domestic horse population and Przewalski's horse. J Appl Genet 57:519-525, 2016. Pubmed reference: 27194311. DOI: 10.1007/s13353-016-0352-7.
2015 Haase, B., Jagannathan, V., Rieder, S., Leeb, T. :
A novel KIT variant in an Icelandic horse with white-spotted coat colour. Anim Genet 46:466, 2015. Pubmed reference: 26059442. DOI: 10.1111/age.12313.
2013 Hauswirth, R., Jude, R., Haase, B., Bellone, R.R., Archer, S., Holl, H., Brooks, S.A., Tozaki, T., Penedo, M.C., Rieder, S., Leeb, T. :
Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes. Anim Genet 44:763-5, 2013. Pubmed reference: 23659293. DOI: 10.1111/age.12057.
2012 Svensson, E.M., Telldahl, Y., Sjöling, E., Sundkvist, A., Hulth, H., Sjøvold, T., Götherström, A. :
Coat colour and sex identification in horses from Iron Age Sweden. Ann Anat 194:82-7, 2012. Pubmed reference: 22154005. DOI: 10.1016/j.aanat.2011.11.001.
2011 Bai, D.Y., Yang, L.H., Unerhu, U., Zhao, Y.P., Zhao, Q.N., Hasigaowa, H., Dugarjaviin, M. :
[Effects of Kit gene on coat depigmentation in white horses]. Yi Chuan 33:1171-8, 2011. Pubmed reference: 22120071.
Haase, B., Rieder, S., Tozaki, T., Hasegawa, T., Penedo, MC., Jude, R., Leeb, T. :
Five novel KIT mutations in horses with white coat colour phenotypes. Anim Genet 42:337-339, 2011. Pubmed reference: 21554354. DOI: 10.1111/j.1365-2052.2011.02173.x.
2010 Bellone, RR. :
Pleiotropic effects of pigmentation genes in horses. Anim Genet 41 Suppl 2:100-10, 2010. Pubmed reference: 21070283. DOI: 10.1111/j.1365-2052.2010.02116.x.
Holl, H., Brooks, S., Bailey, E. :
De novo mutation of KIT discovered as a result of a non-hereditary white coat colour pattern Animal Genetics 41 Suppl 2:196-198, 2010.
Horváth, G., Blahó, M., Kriska, G., Hegedüs, R., Gerics, B., Farkas, R., Akesson, S. :
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2009 Haase, B., Brooks, SA., Tozaki, T., Burger, D., Poncet, PA., Rieder, S., Hasegawa, T., Penedo, C., Leeb, T. :
Seven novel KIT mutations in horses with white coat colour phenotypes. Anim Genet 40:623-629, 2009. Pubmed reference: 19456317. DOI: 10.1111/j.1365-2052.2009.01893.x.
Haase, B., Obexer-Ruff, G., Dolf, G., Rieder, S., Burger, D., Poncet, PA., Gerber, V., Howard, J., Leeb, T. :
Haematological parameters are normal in dominant white Franches-Montagnes horses carrying a KIT mutation. Vet J :, 2009. Pubmed reference: 19362501. DOI: 10.1016/j.tvjl.2009.02.017.
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Molecular tests for coat colours in horses. J Anim Breed Genet 126:415-24, 2009. Pubmed reference: 19912415. DOI: 10.1111/j.1439-0388.2009.00832.x.
2008 Haase, B., Jude, R., Brooks, SA., Leeb, T. :
An equine chromosome 3 inversion is associated with the tobiano spotting pattern in German horse breeds. Anim Genet 39:306-9, 2008. Pubmed reference: 18410476. DOI: 10.1111/j.1365-2052.2008.01715.x.
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Genetic analysis of white facial and leg markings in the Swiss Franches-Montagnes Horse Breed. J Hered 99:130-6, 2008. Pubmed reference: 18296388. DOI: 10.1093/jhered/esm115.
2007 Brooks, SA., Lear, TL., Adelson, DL., Bailey, E. :
A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses. Cytogenet Genome Res 119:225-30, 2007. Pubmed reference: 18253033. DOI: 10.1159/000112065.
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  • Created by Kao Castle on 03 Aug 2009
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