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| Nomenclature |
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Symbol:
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Clcn3tm1Suc
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Name:
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chloride channel 3;
targeted mutation 1, Shinichi Uchida
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MGI ID: |
MGI:3530047 |
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Synonyms: |
Clnc3- |
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Gene:
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Clcn3
Location:
Chr8:60910389-60983300 bp, - strand
Genetic Position: Chr8,
30.9 cM
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:96311
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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: A neo replaced exons 5 and 6, which encode transmembrane segments D2-D4. Western blot of mutant brain tissue fractions confirmed the absence of protein. (J:96311)
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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 Clcn3 Mutation:
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72 strains or lines available |
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| References |
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Original: |
J:96311
Yoshikawa M et al.,
"CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis."
Genes Cells 2002 Jun;7(6):597-605
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All: |
4 reference(s)
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