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Allele : Mitf<mi-ew> melanogenesis associated transcription factor; eyeless white

Primary Identifier  MGI:1856094 Allele Type  Spontaneous
Gene  Mitf Inheritance Mode  Recessive
Strain of Origin  C57BL/6Bn Is Recombinase  false
Is Wild Type  false
description  Mitfmi-ew, eyeless white, recessive. This mutation occurred spontaneously at the University of Kansas. Homozygotes have white coat color. The eyes are undeveloped and eyelids never open. Heterozygotes with various other Mitf mutations have been described (J:30755). The DNA lesion is a deletion of a portion of the Mitf gene, including the basic region (J:21366).
molecularNote  A-to-T transversion four nucleotides downstream of the exon 6b donor site. This mutation is likely to be sufficient to abolish normal splicing, leading to exon skipping and an mRNA missing exons 6a/6b.
  • mutations:
  • Single point mutation
  • synonyms:
  • mi<ew>,
  • mi<ew>
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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

14 Publication categories

Trail: Allele