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Allele : Mitf<tm1Arnh> melanogenesis associated transcription factor; targeted mutation 1, Heinz Arnheiter

Primary Identifier  MGI:3774153 Allele Type  Targeted
Gene  Mitf Transmission  Germline
Strain of Origin  129S1/Sv-Oca2<+> Tyr<+> Kitl<+> Is Recombinase  false
Is Wild Type  false
molecularNote  This allele resulted from an unplanned intragenic duplication event that occurred during a targeted mutation of the gene. The targeted mutation was within exon 2B to change the coding sequence for amino acid 73 from serine to alanine (S73A) and a silent nucleotide change 10bp upstream to generate a diagnostic restriction site. A floxed neomycin selection cassette was also inserted into intron 2. During recombination, 85,222 bp of wild-type gene sequence duplicated and inserted after exon 4 so that 7 exons (1H through 4) are repeated. Restriction digest and Southern blotting confirmed the presence of the targeted mutation and the duplication event.
  • mutations:
  • Insertion
  • synonyms:
  • Mitf S73A-neo,
  • Mitf S73A-neo
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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