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Targeted Allele Detail
Symbol: Gbatm1Nsb
Name: glucosidase, beta, acid; targeted mutation 1, Edward Ginns
MGI ID: MGI:1857175
Gene: Gba  Location: Chr3:89202928-89208966 bp, + strand  Genetic Position: Chr3, 39.01 cM
Germline Transmission:  Earliest citation of germline transmission: J:1100
Parent Cell Line:  CCE/EK.CCE (ES Cell)
Strain of Origin:  129S/SvEv-Gpi1c
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsA 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. (J:1100)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Gba Mutation:  12 strains or lines available
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

Original:  J:1100 Tybulewicz VL, et al., Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature. 1992 Jun 4;357(6377):407-10
All:  12 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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