| Primary Identifier | MGI:2180202 | Allele Type | Targeted |
| Attribute String | Humanized sequence, Hypomorph | Gene | Gba1 |
| Transmission | Germline | Strain of Origin | 129S4/SvJae |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | 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. |
