Version: 8.0.0
Date: Tue Jan 28 2025
Pygmtm1.1Adru
MGI:5696972
Allele of Pygm
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Pygmtm1.1Adru

Species
Mus musculus
Symbol
Pygmtm1.1Adru
Category
allele
Allele of gene
Pygm
Transgenic Constructs
None
Synonyms
  • Pygm p.R50X knock-in
Description
The p.R50X mutation (c.148A4T nucleotide change, GenBank accession number NM_011224.1) was introduced in exon 1. A loxP site flanked neomycin resistance cassette, under the human phospho-glycerate kinase promoter (LoxP-PGK-NEO), was inserted in intron 1. The neo cassette was removed through subsequent cre-mediated recombination. Glycogen phosphorylase activity was totally abolished in the gastrocnemius muscle of homozygous mice.
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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