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| Nomenclature |
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Symbol:
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Clcn7tm2Tjj
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Name:
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chloride channel 7;
targeted mutation 2, Thomas J Jentsch
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MGI ID: |
MGI:2387676 |
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Synonyms: |
C7B, Clcn7- |
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Gene:
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Clcn7
Location:
Chr17:25133391-25162104 bp, + strand
Genetic Position: Chr17,
12.53 cM, cytoband A3.3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:67273
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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 (Reporter) |
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Mutation: | |
Insertion |
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Mutation details: A lacZ-neo cassette was inserted in-frame into exon 7, resulting in a fusion protein and deletion of exons 8-10. Normal transcripts were not observed in homozygous mutant animals as shown by Northern blot analysis. The fusion protein was detected by Western blot of embryonic fibroblast lysates derived from homozygous mutant embryos. (J:67273)
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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 Clcn7 Mutation:
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5 strains or lines available |
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| References |
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Original: |
J:67273
Kornak U et al.,
"Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man."
Cell 2001 Jan 26;104(2):205-15
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All: |
4 reference(s)
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Analysis Tools
