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Clcn1
Gene Detail
 Symbol
Name
ID
Clcn1
chloride channel 1
MGI:88417
Synonyms Clc1, Clc-1, nmf310, nmf355, NMF355, SMCC1
Feature Type protein coding gene
Genetic Map
Chromosome 6
20.57 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr6:42286685-42315756 bp, + strand
From VEGA annotation of GRCm38

  29072 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:63  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 2 zebrafish

Gene Tree: Clcn1

Human
homologs
Human Homolog CLCN1, chloride channel, voltage-sensitive 1
NCBI Gene ID 1180
neXtProt AC  NX_P35523
Human Synonyms  CLC1
Human Chr (Location)  7q35; chr7:143316126-143352004 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human CLCN1
Alleles
and
phenotypes
All alleles(14) : Chemically induced (ENU)(7) Spontaneous(5) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Mutant mice exhibit mild to severe spasms of the hind limbs and abnormal hind limb reflexes.
 
Gene Ontology
(GO)
classifications
All GO classifications: (19 annotations)
Process chloride transmembrane transport, chloride transport, ...
Component chloride channel complex, integral component of membrane, ...
Function adenyl nucleotide binding, chloride channel activity, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (83)    Tissues (39)    Images (22)
Theiler Stages: 19, 23, 25, 28
Assay TypeResults
RNA in situ 77
RT-PCR 6
cDNA source data(9)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress
Molecular
reagents
All nucleic(14) Genomic(1) cDNA(11) Primer pair(1) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000036880 (Evidence)
Ensembl Gene ModelENSMUSG00000029862 (Evidence)
Entrez Gene12723 (Evidence)
NIA Mouse Gene IndexU006750
Consensus CDS ProjectCCDS39471.1
International Mouse Knockout Project StatusClcn1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036880 VEGA Gene Model | MGI Sequence Detail 29072 C57BL/6J ±  kb
transcript OTTMUST00000094738 VEGA | MGI Sequence Detail 3545 Not Applicable 
polypeptide OTTMUSP00000052750 VEGA | MGI Sequence Detail 994 Not Applicable 

For the selected sequences
All sequences(98) RefSeq(12) UniProt(11)
Polymorphisms RFLP(6) : SNPs within 2kb(193 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002243 Chloride channel ClC-1
InterPro IPR014743 Chloride channel, core
InterPro IPR001807 Chloride channel, voltage gated
InterPro IPR000644 Cystathionine beta-synthase, core
Protein Ontology PR:000005528 chloride channel protein, skeletal muscle
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:195944 Arnaiz I, et al., Changing expression of chloride channels during preimplantation mouse development. Reproduction. 2013 Jan;145(1):73-84
All references(92)
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
07/15/2014
MGI 5.18
The Jackson Laboratory