Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function

@article{Robbins1993PigmentationPO,
  title={Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function},
  author={L. S. Robbins and J. Nadeau and K. Johnson and Michele A Kelly and R. Cone},
  journal={Cell},
  year={1993},
  volume={72},
  pages={827-834}
}
Coat colors in the chestnut horse, the yellow Labrador retriever, the red fox, and one type of yellow mouse are due to recessive alleles at the extension locus. Similarly, dominant alleles at this locus are often responsible for dark coat colors in mammals, such as the melanic form of the leopard, Panthera pardus. We show here that the murine extension locus encodes the melanocyte-stimulating hormone (MSH) receptor. In mice, the recessive yellow allele (e) results from a frameshift that… Expand
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