Allele/Variant

Pkd1m1Bei

Species
Mus musculus
Symbol
Pkd1m1Bei
Category
allele
Allele of gene
Pkd1
Transgenic Constructs
None
Synonyms
  • line 172
  • Pkd1-
Description
This ENU-induced mutation was shown by complementation testing to be an allele of Pkd1. Molecular analysis determined that a T to G transversion mutation at position 9248 results in a methionine to arginine substitution in the first transmemebrane domain of the encoded protein. A similar mutation is found in humans.
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
    Evidence
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