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Double muscling is a trait previously described in several mammalian species including cattle and sheep and is caused by mutations in the myostatin  (MSTN)  gene (previously referred to as  GDF8 ). Here we describe a new mutation in  MSTN  found in the whippet dog breed that results in a double-muscled phenotype known as the “bully” whippet. Individuals with this phenotype carry two copies of a two-base-pair deletion in the third exon of  MSTN  leading to a premature stop codon at amino acid 313. Individuals carrying only one copy of the mutation are, on average, more muscular than wild-type individuals ( p  = 7.43 × 10 −6 ; Kruskal-Wallis Test) and are significantly faster than individuals carrying the wild-type genotype in competitive racing events (Kendall's nonparametric measure, τ = 0.3619;  p  ≈ 0.00028). These results highlight the utility of performance-enhancing polymorphisms, marking the first time a mutation in  MSTN  has been quantitatively linked to increased athletic performance.

A Mutation in the Myostatin Gene Increases Muscle Mass and Enhances Racing Performance in Heterozygote Dogs