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| Nomenclature |
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Symbol:
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Gbatm2Karl
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Name:
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glucosidase, beta, acid;
targeted mutation 2, Stefan Karlsson
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MGI ID: |
MGI:3764510 |
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Synonyms: |
gbalnl |
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Gene:
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Gba
Location:
Chr3:89202928-89208681 bp, + strand
Genetic Position: Chr3,
39.01 cM
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Gbatm2Karl/Gbatm2Karl Tg(KRT14-cre)8Brn/? mice display a severe and rapidly progressive neurological disease
Show the 6 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:127108
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: A 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
4 reference(s)
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Analysis Tools
