Key result
Intronic Myh4 C-to-T SNP causes the mini-muscle phenotype in mice.
Identification of a specific intronic SNP in the Myh4 gene responsible for the mini-muscle phenotype in mice demonstrates a novel strategy for finding causative mutations in quantitative genetics.
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May inform genetic models of exercise capacity; leaves open whether analogous variants affect human cardiovascular traits or training responses.
Kelly et al. (2013) studied Mini-muscle phenotype. C-to-T transition SNP in Myh4 gene vs. Mice without the mini-muscle mutation was evaluated on Identification of the genetic variant causing the mini-muscle phenotype. A C-to-T transition SNP in an intron of the Myh4 skeletal muscle gene was identified as the cause of the mini-muscle phenotype in mice.
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