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Allele : Tyr<c-Btlr> tyrosinase; albino Bruce Beutler

Primary Identifier  MGI:3777840 Allele Type  Chemically induced (ENU)
Gene  Tyr Inheritance Mode  Recessive
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false Project Collection  Beutler Mutagenetix
molecularNote  The mutation is an A-to-G transition at coding nucleotide 1088, in the third of 5 exons, that replaces histidine with arginine at amino acid position 363 (p.H363R) of the protein. This highly conserved histidine is one of three copper-binding histidines in the second copper-binding domain (CuB) of the protein and is essential for its enzymatic activity.
  • mutations:
  • Single point mutation
  • synonyms:
  • Tyr<c-ghost>,
  • Tyr<c-ghost>,
  • ghost,
  • ghost
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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

4 Publication categories

Trail: Allele