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Targeted Allele Detail
Symbol: Gbatm4Ggb
Name: glucosidase, beta, acid; targeted mutation 4, Gregory A Grabowski
MGI ID: MGI:2680328
Synonyms: D409V, Gba1D409V
Gene: Gba  Location: Chr3:89202928-89208966 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 (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
Mutation detailsA floxed PGK-neomycin resistance gene was inserted into intron 8 and an A to T point mutation was inserted at position 1366 (GenBank M24119) in exon 9 causing a D to V amino acid substitution at residue 409 (D409V). 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 and curated references 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:  23 strains or lines available
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:  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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last database update
MGI 6.11
The Jackson Laboratory