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Allele : Mitf<mi-Mhdabcc2> melanogenesis associated transcription factor; microphthalmia Martin Hrabe de Angelis bright coat color 2
Primary Identifier  MGI:3040390 Allele Type  Chemically induced (ENU)
Gene  Mitf Inheritance Mode  Semidominant
Strain of Origin  C3HeB/FeJ Is Recombinase  false
Is Wild Type  false
molecularNote  An A to G transition at position 755 resulted in a His209Arg substitution in the basic domain of the protein, important for DNA-E box binding. The mutant protein was not able to bind to E-box DNA as was shown by gel shift analysis.
  • mutations:
  • Single point mutation
  • synonyms:
  • Mitf<mi-bcc2>,
  • Mitf<mi-bcc2>,
  • Gsfbcc2,
  • BCC2,
  • Gsfbcc2,
  • BCC2
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele




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