Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Clcn5tm1Gug
Name:	chloride channel, voltage-sensitive 5; targeted mutation 1, William B Guggino
MGI ID:	MGI:2181017
Synonyms:	ClC-5 KO, Clcn5-, Clcn5 KO
Gene:	Clcn5  Location: ChrX:7020049-7185597 bp, - strand  Genetic Position: ChrX, 3.21 cM, cytoband F3-F4
Alliance:	Clcn5tm1Gug page

Germline Transmission:	Earliest citation of germline transmission: J:66560
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   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)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

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:	16 strains or lines available

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
All:	13 reference(s)