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Allele : Pah<m1Btlr> phenylalanine hydroxylase; mutation 1, Bruce Beutler

Primary Identifier  MGI:4361841 Allele Type  Chemically induced (ENU)
Gene  Pah Inheritance Mode  Recessive
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false Project Collection  Beutler Mutagenetix
molecularNote  This mutation comprises a T to C transition at nucleotide position 70 of the mRNA sequence, in the segment transcribed from the seventh of the gene's 13 exons. It results in the replacement of leucine by proline at amino acid position 242 of the protein (L242P).
  • mutations:
  • Single point mutation
  • synonyms:
  • bronze,
  • bronze
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

3 Publication categories