About   Help   FAQ
Clcn5tm1Tjj
Targeted Allele Detail
Summary
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:7020049-7185597 bp, - strand  Genetic Position: ChrX, 3.21 cM, cytoband F3-F4
Alliance: Clcn5tm1Tjj page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:77111
Parent Cell Line:  MPI-II (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
 
Mutation details: A 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)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 1 anatomical structure(s)
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:  17 strains or lines available
References
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:  11 reference(s)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory