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Curly Coat Phenotype (KRT71 - p.Ser422ArgfsTer)

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Test Overview:

Breeding strategies should avoid mating two carriers of the p.Ser422ArgfsTer variant to minimize health risks. Genetic testing for this mutation is recommended in breeds where it segregates, notably Curly Coated Retrievers and other affected breeds. Use of genetic tests helps breeders select for coat phenotype while preventing possible negative health consequences. Responsible breeding includes genetic screening, pedigree analysis, and awareness of incomplete dominance effects on coat phenotype.

Category:

Trait (Associated with Phenotype)

Gene:

KRT71

Variant Detected:

c.1266_1273delCCTGAAGCinsACA p. Ser422ArgfsTer

Severity:

It is a trait and so is tested based on preference, not usually for health concerns.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

A second KRT71 allele in curly coated dogs A. Bauer S. Hadji Rasouliha M. T. Brunner V. Jagannathan I. Bucher J. Bannoehr K. Varjonen R. Bond K. Bergvall M. M. Welle P. Roosje T. Leeb 1. Cadieu E, Neff MW, Quignon P, Walsh K, Chase K, Parker HG, VonHoldt BM, Rhue A, Boyko A, Byers A, Wong A, Mosher DS, Elkahloun AG, Spady TC, Andre C, Lark KG, Cargill M, Bustamante CD, Wayne RK, Ostrander EA. Coat variation in the domestic dog is governed by variants in three genes. Science. 2009 Oct; 326(5949);150-153.

Associated Breed(s):

Mixed Breed,
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