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Article

Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.

Animal genetics - 1 Dec 2013

Hauswirth Regula, Jude Rony, Haase Bianca, Bellone Rebecca R, Archer Sheila, Holl Heather, Brooks Samantha A, Tozaki Teruaki, Penedo Maria Cecilia T, Rieder Stefan, Leeb Tosso

Abstract excerpt

Variants in the EDNRB, KIT, MITF, PAX3 and TRPM1 genes are known to cause white spotting phenotypes in horses, which can range from the common white markings up to completely white horses. In this study, we investigated these candidate genes in 169 horses with white spotting phenotypes not explained by the previously described variants. We identified a novel missense variant, PAX3:p.Pro32Arg, in Appaloosa horses...

Read the complete abstract on PubMed

Topics

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Share to EDNRB gene
Share to Hair

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Horses

Share to Mutation, Missense

Share to Paired Box Transcription Factors

Share to Phenotype

Share to Pigmentation

Share to Proto-Oncogene Proteins c-kit

Source

Identifiers

PMID: 23659293
DOI: 10.1111/age.12057

Genes

KIT
PAX3
EDNRB
MITF
TRPM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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