| Primary Identifier | MGI:1857175 | Allele Type | Targeted |
| Attribute String | Null/knockout | Gene | Gba1 |
| Transmission | Germline | Strain of Origin | 129S/SvEv-Gpi1<c> |
| Is Recombinase | false | Is Wild Type | false |
| description | Homozygotes for the mutation die within 24 hours after birth, and store glucocerebroside in reticuloendothelial cell lysosomes (J:1100). Epidermal effects of Gbatm1Nsb include elevated glucosylceremide, diminished ceremide, and incompetent barrier function (J:17577). Phenotypic Similarity to Human Syndrome: Gaucher Disease J:200186 |
| molecularNote | A neomycin resistance cassette was inserted into exons 9 and 10 of the gene, which encode part of the active site of the enzyme. Enzymatic activity of the targeted protein in homozygous mutant mice was less than 4% of controls. |
