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Gba1tm1.1Pmis
Targeted Allele Detail
Summary
Symbol: Gba1tm1.1Pmis
Name: glucosylceramidase beta 1; targeted mutation 1.1, Pramod K Mistry
MGI ID: MGI:4867659
Synonyms: GBA1LoxP
Gene: Gba1  Location: Chr3:89110235-89116273 bp, + strand  Genetic Position: Chr3, 39.01 cM
Alliance: Gba1tm1.1Pmis page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:167081
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Conditional ready, No functional change)
Mutation:    Insertion
 
Mutation detailsA floxed neo cassette was inserted upstream of exon 8 and an additional loxP site was inserted downstream of exon 11. Cre-mediated recombination removed the neo cassette leaving exons 8 through 11 floxed. (J:167081)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 9 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:167081 Mistry PK, et al., Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc Natl Acad Sci U S A. 2010 Nov 9;107(45):19473-8
All:  4 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
06/12/2024
MGI 6.13
The Jackson Laboratory