A frameshift mutation in the coding region of the myostatin gene (MSTN) affects carcass conformation and fatness in Norwegian White Sheep (Ovis aries)

Anim Genet. 2009 Aug;40(4):418-22. doi: 10.1111/j.1365-2052.2009.01855.x. Epub 2009 Mar 23.


Mutations in the coding region of the myostatin gene (MSTN) are known to cause an increased muscle mass (IMM) phenotype in several mammals, including mice, dogs, cattle and humans. In sheep, a mutation in the 3'-UTR region introducing a microRNA target site has been reported to cause an IMM-like phenotype because of downregulation of translation. Here we report a novel single base deletion in the coding region of the myostatin gene causing an IMM phenotype in Norwegian White Sheep, characterized by a high carcass conformation class and low fat class (EUROP classification system). The deletion disrupts the reading frame from amino acid (aa) position 320, ending in a premature stop codon in aa position 359. In our material, these MSTN mutations segregated in a pattern showing that they reside in two different haplotypes. The phenotypic effect of the single base deletion is more profound than that of the 3'-UTR mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Body Composition / genetics*
  • Frameshift Mutation*
  • Haplotypes
  • Least-Squares Analysis
  • Myostatin / genetics*
  • Phenotype
  • Sequence Analysis, DNA
  • Sheep, Domestic / anatomy & histology
  • Sheep, Domestic / genetics*
  • Sheep, Domestic / growth & development


  • Myostatin