Clcn5^tm1Gug
Targeted Allele Detail

Nomenclature

• Symbol: Clcn5^tm1Gug
• 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:7153810-7319358 bp, - strand Genetic Position: ChrX, 3.21 cM, cytoband F3-F4

Mutation origin

• 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⁺

Mutation description

• 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)

Disease models

Expression

In Structures Affected by this Mutation:

3 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: 12 strains or lines available

References

• 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: 11 reference(s)