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Allele : Mitf<mi-enu198> melanogenesis associated transcription factor; microphthalmia enu 198

Primary Identifier  MGI:2148646 Allele Type  Chemically induced (ENU)
Gene  Mitf Inheritance Mode  Recessive
Strain of Origin  (102 x C3H)F1 Is Recombinase  false
Is Wild Type  false
molecularNote  A to G transition at position 749 of the cDNA. This mutation is 15 nucleotides upstream of the exon6/exon7 splice junction and results in both an aspartic acid to glycine substitution at amino acid 207 of the encoded protein and the skipping of exon 6 in the encoded mRNA.
  • mutations:
  • Single point mutation
  • synonyms:
  • ENU-198,
  • ENU-198
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories