Version: 8.0.0
Date: Tue Jan 28 2025
Pahm1Btlr
MGI:4361841
Allele of Pah
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Pahm1Btlr

Species
Mus musculus
Symbol
Pahm1Btlr
Category
allele
Allele of gene
Pah
Transgenic Constructs
None
Synonyms
  • bronze
Description
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).
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
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