Version: 8.0.0
Date: Tue Jan 28 2025
Cys1cpk
MGI:1856831
Allele of Cys1
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Cys1cpk

Species
Mus musculus
Symbol
Cys1cpk
Category
allele
Allele of gene
Cys1
Transgenic Constructs
None
Synonyms
  • ck
  • cpk
Description
The underlying mutation responsible for the phenotype in the cpk mouse consists of a tandem deletion of 12 bp and 19 bp. The result is a frame-shift within exon 1 that truncates the protein. Northern analysis from kidney and liver revealed the presence of transcript in homozygous mutant animals at reduced levels compared to wild-type.
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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