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Allele : Mitf<mi-vit> melanogenesis associated transcription factor; vitiligo

Primary Identifier  MGI:1856095 Allele Type  Spontaneous
Gene  Mitf Inheritance Mode  Recessive
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
description  Mitfmi-vit homozygotes show a slow progressive loss of photoreceptor cells, cosegregating with the gradual depigmentation (J:28910). Details of the degenerative process have been studied extensively (J:25135).
molecularNote  G-to-A transition that leads to an aspartate to asparagine substitution at amino acid 222 (p.D222N) in the encoded protein. This mutation is in the helix 1 region of the protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • vit,
  • Mitf<mi-vitiligo>,
  • vit,
  • Mitf<mi-vitiligo>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

3 Carried By

0 Driven By

39 Publication categories