Version: 8.0.0
Date: Tue Jan 28 2025
Col4a5em1Keha
MGI:6479074
Allele of Col4a5
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Col4a5em1Keha

Species
Mus musculus
Symbol
Col4a5em1Keha
Category
allele
Allele of gene
Col4a5
Transgenic Constructs
None
Synonyms
  • R471X
Description
CRISPR/Cas9 technology generated a C to T change at position 1411 (c.1411C>T) resulting in a stop codon at arginine 471 (p.R471*) in exon 21. This is a mutation described in a patient with Alport Syndrome. qPCR indicates decreased mRNA levels in the renal cortex.
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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Source
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
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