OMIA 001688-9796 : Coat colour, white spotting, PAX3-related in Equus caballus
Hauswirth et al. (2013) reported a second missense variant in the PAX3 gene in an Appaloosa family segregating for a splashed white phenotype (c.95C>G; p:Pro32Arg).
Table S1 of Dürig et al. (2017) provides details of all PAX3 alleles (plus alleles at EDNRB, KIT, MITF) known in July 2016.Clinical features: Magdesian et al. 2009 demonstrated an increased risk for deafness in horses with the splashed white and/or frame overo spotting phenotype. Hauswirth et al. 2012 reported that "Some, but not all, splashed white horses are deaf." Prevalence: Druml et al. (2018) reported that "besides Quarter Horses, the PAX3^C70Y [SW2] allele is also present in Noriker (seven out of 189) and Lipizzan (three out of 329) horses" and that of "10 heterozygous PAX3^C70Y-carrier horses, two had nearly a splashed white phenotype". Genetic testing: Genetic testing is offered by the Veterinary Genetics Laboratory of UC Davis. Breeds: American Paint Horse, Appaloosa, Quarter Horse. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PAX3||paired box 3||Equus caballus||6||NC_009149.3 (11200892..11108461)||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.
|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|
|Lipizzan Noriker Quarter Horse||Splashed white||PAX3||SW2||missense||EquCab2||6||g.11429753G>A||c.209G>A||p.C70Y||2012||22511888||Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124|
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.
|2019||Hauswirth, R., Haase, B., Blatter, M., Brooks, S.A., Burger, D., Drögemüller, C., Gerber, V., Henke, D., Janda, J., Jude, R., Magdesian, K.G., Matthews, J.M., Poncet, P.A., Svansson, V., Tozaki, T., Wilkinson-White, L., Penedo, M.C.T., Rieder, S., Leeb, T. :|
|Correction: Mutations in MITF and PAX3 Cause "Splashed White" and Other White Spotting Phenotypes in Horses. PLoS Genet 15:e1008321, 2019. Pubmed reference: 31374075. DOI: 10.1371/journal.pgen.1008321.|
|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.|
|2017||Dürig, N., Jude, R., Jagannathan, V., Leeb, T. :|
|A novel MITF variant in a white American Standardbred foal. Anim Genet 48:123-124, 2017. Pubmed reference: 27592871. DOI: 10.1111/age.12484.|
|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.|
|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||Hauswirth, R., Haase, B., Blatter, M., Brooks, S.A., Burger, D., Drögemüller, C., Gerber, V., Henke, D., Janda, J., Jude, R., Magdesian, K.G., Matthews, J.M., Poncet, P.A., Svansson, V., Tozaki, T., Wilkinson-White, L., Penedo, M.C., Rieder, S., Leeb, T. :|
|Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses. PLoS Genet 8(4):e1002653, 2012. Pubmed reference: 22511888. DOI: 10.1371/journal.pgen.1002653.|
|2009||Magdesian, KG., Williams, DC., Aleman, M., LeCouteur, RA., Madigan, JE. :|
|Evaluation of deafness in American Paint Horses by phenotype, brainstem auditory-evoked responses, and endothelin receptor B genotype. J Am Vet Med Assoc 235:1204-11, 2009. Pubmed reference: 19912043. DOI: 10.2460/javma.235.10.1204.|
- Created by Frank Nicholas on 19 Apr 2012
- Changed by Frank Nicholas on 03 Jun 2013
- Changed by Tosso Leeb on 02 Nov 2016
- Changed by Tosso Leeb on 03 Nov 2016
- Changed by Frank Nicholas on 02 Mar 2017
- Changed by Frank Nicholas on 19 Apr 2018