Gba1^tm1Rlp

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Species

Mus musculus

Symbol

Gba1^tm1Rlp

Category

allele

Allele of gene

Gba1

Transgenic Constructs

None

Synonyms

• Gba^L444P
• L444P

Description

A leucine to proline substitution mutation at amino acid position 462 (444 in mature protein) (p.L462P) is associated with Gaucher disease type 3 in humans. This mutation was introduced in mice using a single insertion mutagenesis procedure, changing leucine codon 462 (TTG) to proline (CCG). The level of gene expression in brain of mutant mice is similar to wild-type as determined by Northern blot analysis, but enzyme assays with liver, brain, and skin extracts demonstrate that enzyme activity is 20% that of wild-type.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations