Gba1^tm1Rlp

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. (J:46243)