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Gbatm3Ggb
Targeted Allele Detail
Nomenclature
Symbol: Gbatm3Ggb
Name: glucosidase, beta, acid; targeted mutation 3, Gregory A Grabowski
MGI ID: MGI:2680324
Synonyms: D409H
Gene: Gba  Location: Chr3:89202928-89208966 bp, + strand  Genetic Position: Chr3, 39.01 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:86334
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S5/SvEvBrd
Mutation
description
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Mutation detailsA floxed PGK-neomycin resistance gene was inserted into intron 8 and an G to C point mutation was inserted at position 1365 (GenBank M24119) in exon 9 causing a D to H amino acid substitution at residue 409 (D409H). The neomycin gene was then removed using a protamine promoter driven cre recombinase transgene active in spermatogonia of male chimeric mice. (J:86334)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structures
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
References
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:  10 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory