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| Nomenclature |
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Symbol:
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Clcn6tm1Tjj
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Name:
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chloride channel 6;
targeted mutation 1, Thomas J Jentsch
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MGI ID: |
MGI:3687967 |
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Synonyms: |
Clcn6- |
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Gene:
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Clcn6
Location:
Chr4:148004259-148038821 bp, - strand
Genetic Position: Chr4,
78.67 cM, cytoband E1
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Characterization of storage material and axonal swelling in Clcn6tm1Tjj/Clcn6tm1Tjj mice
Show the 1 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:113752
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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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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A lacZneo replaced the downstream end of exon 7. Western blot failed to detect protein in mutant animals in all tissues examined. (J:113752)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Clcn6 Mutation:
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36 strains or lines available |
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| References |
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Original: |
J:113752
Poet M et al.,
"Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6."
Proc Natl Acad Sci U S A 2006 Sep 12;103(37):13854-9
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All: |
1 reference(s)
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Analysis Tools
