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Clcn1 Gene Detail
 Symbol
Name
ID
Clcn1
chloride channel 1
MGI:88417


Nomenclature History
Synonyms Clc-1, Clc1, nmf310, NMF355, nmf355, SMCC1
Genetic Map
Chromosome 6
22.5 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 8)

Sequence Map
Chr6:42236684-42264655 bp, + strand
(From NCBI annotation of NCBI Build 37)
Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Clcn1 ± 2 cM)
TreeFam: TF352264
Sequences
Representative Sequences Length Strain/Species Flank
genomic 12723 NCBI Gene Model | MGI Sequence Detail 27972 C57BL/6J ± Kb
transcript NM_013491 RefSeq | MGI Sequence Detail 3545 C57BL/6
polypeptide Q64347 UniProt | EBI | MGI Sequence Detail 994 Not Applicable
For the selected sequences
All sequences(42)
Alleles
and
phenotypes
All alleles(13) : Targeted, other(2) Spontaneous(5) Chemically induced(6)
Mutant mice exhibit mild to severe spasms of the hind limbs and abnormal hind limb reflexes.
Polymorphisms RFLP(6) SNPs within 2kb(180 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(16)
Process chloride transport, ion transport...
Component chloride channel complex, integral to membrane...
Function chloride channel activity, chloride ion binding...
External Resources: MouseFunc
Expression Literature Summary: (2 records)
Data Summary: Assays (2)    Results (6)    Tissues (4)
Theiler Stages: 25,28
  Assay Type Assays   Results
      RT-PCR 2   6
cDNA source data(7)
External Resources: Allen Brain Atlas  GENSAT  GEO 
Molecular
reagents
All nucleic(11) cDNA(9) Primer pair(1) Other(1)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000029862
NIA Mouse Gene Index U006750
Entrez Gene 12723
International Mouse Knockout Project Status Clcn1
Protein
domains
InterPro ID Description
IPR000644 Cystathionine beta-synthase, core
IPR001807 Chloride channel, voltage gated
IPR002243 Chloride channel CLC-1
IPR014743 Chloride channel, core
Graphical View of Protein Domain Structure
References
(Earliest) J:24998 Bryant SH et al., "Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids." J Physiol 1971 Dec;219(2):367-83
(Latest) J:146835 Osborne RJ et al., "Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy." Hum Mol Genet 2009 Apr 15;18(8):1471-81
All references(66)
Other
accession IDs
MGD-MRK-1133, MGD-MRK-12592, MGD-MRK-2007, MGD-MRK-2008, MGI:3583309

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/20/2009
MGI_4.31
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The Jackson Laboratory