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Targeted Allele Detail
Symbol: Clcn5tm1Tjj
Name: chloride channel, voltage-sensitive 5; targeted mutation 1, Thomas J Jentsch
MGI ID: MGI:2181018
Synonyms: ClC-5, clcn5-
Gene: Clcn5  Location: ChrX:7153810-7319358 bp, - strand  Genetic Position: ChrX, 3.21 cM, cytoband F3-F4
Germline Transmission:  Earliest citation of germline transmission: J:77111
Parent Cell Line:  MPI-II (ES Cell)
Strain of Origin:  129S2/SvPas
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA lacZ-neomycin fusion gene replaced the 3' portion of exon 5 and all of exon 6. The deleted sequence encoded the functionally essential region between transmembrane domains 2 and 5. Northern blot anlaysis showed a lack of transcript in the kidneys of hemizygous mutant mice while Western blot analysis confirmed the absence of protein in extracts derived from various hemizygous mutant tissues. (J:77111)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 1 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 Clcn5 Mutation:  14 strains or lines available
Original:  J:77111 Piwon N, et al., ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature. 2000 Nov 16;408(6810):369-73
All:  9 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
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