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Quietschebuntes SF v. Danciano - Quaterback
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Nochmals an alle meinen herzlichen Dank für die lieben Glückwünsche. Das Fohli entwickelt sich prächtig und ich glaube, so eines darf ich nicht verkaufen. Mir liegen schon alle in den Ohren. Naja,es erst einmal heile groß bekommen.
@Scara Mia nochmals zu Deiner Frage
Zitat von Scara Mia Beitrag anzeigen
Hier die Zusammenfassung der derzeitigen Erkenntnisse
Anim Genet. 2013 Dec;44(6):763-5. doi: 10.1111/age.12057. Epub 2013 May 9.
Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.
Hauswirth R1, Jude R, Haase B, Bellone RR, Archer S, Holl H, Brooks SA, Tozaki T, Penedo MC, Rieder S, Leeb T.
Abstract
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.Pro32Arg, in Appaloosa horses with a splashed white phenotype in addition to their leopard complex spotting patterns. We also found three novel variants in the KIT gene. The splice site variant c.1346+1G>A occurred in a Swiss Warmblood horse with a pronounced depigmentation phenotype. The missense variant p.Tyr441Cys was present in several part-bred Arabians with sabino-like depigmentation phenotypes. Finally, we provide evidence suggesting that the common and widely distributed KIT
.Arg682His variant has a very subtle white-increasing effect, which is much less pronounced than the effect of the other described KIT variants. We termed the new KIT variants W18-W20 to provide a simple and unambiguous nomenclature for future genetic testing applications.
© 2013 The Authors, Animal Genetics © 2013 Stichting International Foundation for Animal Genetics.
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