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Clcn5tm5.1Tjj
Targeted Allele Detail
Summary
Symbol: Clcn5tm5.1Tjj
Name: chloride channel, voltage-sensitive 5; targeted mutation 5.1, Thomas J Jentsch
MGI ID: MGI:4834485
Synonyms: Clcn5Y672E*
Gene: Clcn5  Location: ChrX:7020049-7185597 bp, - strand  Genetic Position: ChrX, 3.21 cM, cytoband F3-F4
Alliance: Clcn5tm5.1Tjj page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:164474
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Not Specified)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA loxP site was inserted downstream of exon 9, exon 11 was replaced with one containing nucleotide substitutions that result in the amino acid substitution of glutamic acid for tyrosine at position 672 (Y672E), and exon 12 was replaced with a modified exon 12 in which nucleotide substitutions result in the amino acid substitutions alanine for aspartic acid and methinone for leucine. The mutations in exon 12 abolish antibody recognition of the C-terminus by converting it to resemble the C-terminus of Clcn3. This provided a tag to differentiate the modified protein from wild-type. An FRT flanked neo cassette inserted downstream of the modified exon 11 was removed by flp mediated recombination. (J:164474)
Generation of the Clcn5tm5.1Tjj allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:164474 Rickheit G, et al., Role of ClC-5 in renal endocytosis is unique among ClC exchangers and does not require PY-motif-dependent ubiquitylation. J Biol Chem. 2010 Jun 4;285(23):17595-603
All:  1 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)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory