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Targeted Allele Detail
Symbol: Gbatm2Karl
Name: glucosidase, beta, acid; targeted mutation 2, Stefan Karlsson
MGI ID: MGI:3764510
Synonyms: gbalnl
Gene: Gba  Location: Chr3:89202928-89208966 bp, + strand  Genetic Position: Chr3, 39.01 cM
Gbatm2Karl/Gbatm2Karl Tg(KRT14-cre)8Brn/? mice display a severe and rapidly progressive neurological disease

Show the 6 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:127108
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsA floxed neo cassette was inserted into intron 8. The abherrant splicing product was confirmed by RT-PCR analysis of brain, spleen and liver tissues and reduced enzymatic activity was observed in the brain, spleen and liver. (J:127108)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Gba Mutation:  12 strains or lines available
Original:  J:127108 Enquist IB, et al., Murine models of acute neuronopathic Gaucher disease. Proc Natl Acad Sci U S A. 2007 Oct 30;104(44):17483-8
All:  4 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 6.0
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