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; chr7:143013219-143049097 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human CLCN1

Alleles and phenotypes

All alleles(13) : Targeted(2) Spontaneous(5) Chemically induced(6)
 

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 transport, ion transmembrane transport, ...
Component	chloride channel complex, integral to membrane, ...
Function	chloride channel activity, ion channel activity, ...

External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (83)    Tissues (39)    Images (22)
Theiler Stages: 19, 23, 25, 28

Assay Type	Results
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 Model	OTTMUSG00000036880 (Evidence)
Ensembl Gene Model	ENSMUSG00000029862 (Evidence)
Entrez Gene	12723 (Evidence)
NIA Mouse Gene Index	U006750
Consensus CDS Project	CCDS39471.1
International Mouse Knockout Project Status	Clcn1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000036880	VEGA Gene Model | MGI Sequence Detail	29072	C57BL/6J
transcript	OTTMUST00000094738	VEGA | MGI Sequence Detail	3545	Not Applicable
polypeptide	OTTMUSP00000052750	VEGA | MGI Sequence Detail	994	Not Applicable

All sequences(88) RefSeq(2) UniProt(11)

Polymorphisms

RFLP(6) : SNPs(175 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:187997 Chamberlain CM, et al., Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise. Hum Mol Genet. 2012 Nov 1;21(21):4645-54
All references(90)

Other accession IDs

MGD-MRK-1133, MGD-MRK-12592, MGD-MRK-2007, MGD-MRK-2008, MGI:3583309