Version: 8.0.0
Date: Tue Jan 28 2025
Gba1tm1.1Eginn
MGI:5587841
Allele of Gba1
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Gba1tm1.1Eginn

Species
Mus musculus
Symbol
Gba1tm1.1Eginn
Category
allele
Allele of gene
Gba1
Transgenic Constructs
None
Synonyms
  • Gbatm1.1Abmb
  • L444P
Description
A point mutation resulted in L444P substitution was introduced by PCR mutagenesis. Cre mediated recombination removed loxP-flanked neomycin cassette between metaxin and glucocerebrosidase, leaving only a 34 bp loxP sequence. Gba activity decreased to approximately 35% of the enzyme activity in normal mice.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
Source
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
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