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Clcn3tm1Suc
Targeted Allele Detail
Nomenclature
Symbol: Clcn3tm1Suc
Name: chloride channel, voltage-sensitive 3; targeted mutation 1, Shinichi Uchida
MGI ID: MGI:3530047
Synonyms: Clnc3-
Gene: Clcn3  Location: Chr8:60910389-60983300 bp, - strand  Genetic Position: Chr8, 30.9 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:96311
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 7 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Clcn3 Mutation:  96 strains or lines available
References
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
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/16/2019
MGI 6.13
The Jackson Laboratory