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| Nomenclature |
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Symbol:
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Clcn5tm1Gug
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Name:
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chloride channel 5;
targeted mutation 1, William B Guggino
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MGI ID: |
MGI:2181017 |
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Synonyms: |
ClC-5 KO, Clcn5-, Clcn5 KO |
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Gene:
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Clcn5
Location:
ChrX:7153810-7319358 bp, - strand
Genetic Position: ChrX,
3.21 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:66560
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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 duplicate of exon 6, which encodes the third and fourth transmembrane domains, was disrupted by a PGK-neo cassette, and inserted into intron 5. Transcript was not detected in the kidneys of homozyous or hemizygous mutant mice by Northern blot analysis. Western blot analysis of renal extracts showed an absence of protein in hemizygous mutant mice. (J:66560)
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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 Clcn5 Mutation:
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13 strains or lines available |
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| References |
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Original: |
J:66560
Wang SS et al.,
"Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis"
Hum Mol Genet 2000 Dec 12;9(20):2937-45
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All: |
9 reference(s)
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Analysis Tools
