Allele/Variant

Gba1tm2.1Eginn

Species
Mus musculus
Symbol
Gba1tm2.1Eginn
Category
allele
Allele of gene
Gba1
Transgenic Constructs
None
Synonyms
  • R463C
Description
A point mutation resulted in R463C 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

Phenotypes

Disease Associations