Version: 8.0.0
Date: Tue Jan 28 2025
Scn5aem1Coop
MGI:6415727
Allele of Scn5a
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Scn5aem1Coop

Species
Mus musculus
Symbol
Scn5aem1Coop
Category
allele
Allele of gene
Scn5a
Transgenic Constructs
None
Synonyms
  • Scn5adeltae6B
Description
CRISPR/Cas9 technology was used to delete the alternate exon 6B and redirect splicing to exon 6A. This results in expression of only the fetal isoform. RT-PCR of heart tissue confirmed that homozygotes exclusively express Scn5a with exon 6A and heterozygotes have approximately 70% Scn5a with exon 6A.
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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