Version: 8.0.0
Date: Tue Jan 28 2025
Epm2atm1Kzy
MGI:2182627
Allele of Epm2a
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Epm2atm1Kzy

Species
Mus musculus
Symbol
Epm2atm1Kzy
Category
allele
Allele of gene
Epm2a
Transgenic Constructs
None
Synonyms
  • Epm2a-
  • laforin-deficient
Description
Exon 4 encoding the dual-specificity phosphatase domain (DSPD) was replaced with a neomycin resistance gene via homologous recombination. Absence of gene expression was verified by Northern blot and RT-PCR analysis of brain and liver tissue from homozygous mutant animals using probes to the DSPD exon and upstream exons 1-3.
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
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