Version: 8.0.0
Date: Tue Jan 28 2025
Polg2M1Rvt
MGI:6355913
Allele of Polg2
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Polg2M1Rvt

Species
Mus musculus
Symbol
Polg2M1Rvt
Category
allele
Allele of gene
Polg2
Transgenic Constructs
None
Synonyms
  • Polg2Y265X
  • RCALC2
Description
The ENU-induced molecular lesion is a C-to-A transversion (c.795C>A) in codon 265 that is predicted to result in an alteration of the tyrosine (Tyr) to a premature stop codon (p.Y265*). Mice carrying this allele recapitulate the phenotype of human nephrocalcinosis (NC) patients.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
Source
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
    Source
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