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Gba1tm3Ggb
Targeted Allele Detail
Summary
Symbol: Gba1tm3Ggb
Name: glucosylceramidase beta 1; targeted mutation 3, Gregory A Grabowski
MGI ID: MGI:2680324
Synonyms: D409H
Gene: Gba1  Location: Chr3:89110235-89116273 bp, + strand  Genetic Position: Chr3, 39.01 cM
Alliance: Gba1tm3Ggb page
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)
Mutations:    Insertion, Single point mutation
 
Mutation detailsA loxP site flanked neomycin resistance gene was inserted into intron 8 and a G-to-C point mutation was created at position 1365 (GenBank M24119) in exon 9 causing a D-to-H amino acid substitution at residue 427 (409 in mature protein) (p.D427H). The neo cassette was then removed through subsequent Cre-mediated recombination. (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 structure(s)
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 Gba1 Mutation:  43 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:  13 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory