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| Nomenclature |
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Symbol:
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Clcn7tm1Tjj
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Name:
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chloride channel 7;
targeted mutation 1, Thomas J Jentsch
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MGI ID: |
MGI:2387675 |
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Synonyms: |
C7A, 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:
| E14 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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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: The gene was disrupted by replacement of exons 3-7 with a neomycin resistance cassette. RT-PCR and Western blot using antibodies directed against the N-terminus of the protein confirmed the absence of gene expression in homozygous mutant mice. (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: |
5 reference(s)
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Analysis Tools
