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Allele : Mc1r<E-tob> melanocortin 1 receptor; tobacco darkening

Primary Identifier  MGI:1856030 Allele Type  Spontaneous
Gene  Mc1r Inheritance Mode  Semidominant
Strain of Origin  M. m. domesticus poschiavinus Is Recombinase  false
Is Wild Type  false
molecularNote  Two independent PCR assays found a C-to-T mutation at coding nucleotide 206 resulting in a serine to leucine alteration in codon 69 (p.S69L). A second nucleotide C-to-T change results in a silent mutation at position 166. The result is a receptor that is overactive, though responsive to hormone regulation, and produces a greater activation of the MC1R effector, G protein-coupled adenylyl cyclase, than does the wild-type allele.
  • mutations:
  • Single point mutation
  • synonyms:
  • E<tob>,
  • E<tob>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

5 Carried By

0 Driven By

7 Publication categories