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Targeted Allele Detail
Symbol: Gbatm1Ggb
Name: glucosidase, beta, acid; Targeted mutation 1, Gregory A Grabowski
MGI ID: MGI:2680317
Synonyms: N370S
Gene: Gba  Location: Chr3:89202928-89208681 bp, + strand  Genetic Position: Chr3, 39.01 cM
Germline Transmission:  Earliest citation of germline transmission: J:86334
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S5/SvEvBrd
Allele Type:    Targeted
Mutation:    Insertion
Mutation detailsA floxed PGK-neomycin resistance gene was inserted into intron 8 and an A to G point mutation was inserted at position 1249 (GenBank M24119) in exon 9 causing an N to S amino acid substitution at residue 370. The neomycin gene was then removed using a protamine promoter driven cre recombinase transgene active in spermatogonia of male chimeric mice. (J:86334)
View phenotypes for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Gba Mutation:  10 strains or lines available

Phenotypic Similarity to Human Syndrome: Gaucher Disease J:200186

Original:  J:86334 Xu YH, et al., Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease. Am J Pathol. 2003 Nov;163(5):2093-101
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 5.21
The Jackson Laboratory