Clcn7 MGI Mouse Gene Detail - MGI:1347048 - chloride channel, voltage-sensitive 7

Symbol

Clcn7
Name

chloride channel, voltage-sensitive 7
Synonyms

ClC-7

Feature Type

protein coding gene
IDs

MGI:1347048
NCBI Gene: 26373
Alliance

genome feature page
Transcription Start Sites

9 TSS

Sequence Map

Chr17:25352365-25381078 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 12.53 cM, cytoband A3.3
Mapping Data

5 experiments

SNPs within 2kb

693 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1347048	protein coding gene	Chr17:25352353-25381078 (+)
129S1/SvImJ	ENSMUSG00200050757	protein coding gene	Chr17:20796673-20825053 (+)
A/J	ENSMUSG00195051997	protein coding gene	Chr17:21815768-21844157 (+)
AKR/J	ENSMUSG00220052552	protein coding gene	Chr17:20861110-20889498 (+)
BALB/cJ	ENSMUSG00180040315	protein coding gene	Chr17:21094634-21123037 (+)
C3H/HeJ	ENSMUSG00175044553	protein coding gene	Chr17:20853283-20881737 (+)
C57BL/6NJ	ENSMUSG00215054141	protein coding gene	Chr17:20860642-20889356 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021222	protein coding gene	Chr17:20957853-20990733 (+)
CAST/EiJ	ENSTCUG00005043847	protein coding gene	Chr17:21436339-21464795 (+)
CBA/J	ENSMUSG00210045199	protein coding gene	Chr17:20692115-20720549 (+)
DBA/2J	ENSMUSG00185050117	protein coding gene	Chr17:22904071-22932462 (+)
FVB/NJ	ENSMUSG00205029428	protein coding gene	Chr17:21157662-21186084 (+)
JF1/MsJ	ENSUMUG00000043952	protein coding gene	Chr17:22352168-22380850 (+)
LP/J	ENSMUSG00230054482	protein coding gene	Chr17:24301295-24329678 (+)
NOD/ShiLtJ	ENSMUSG00190054055	protein coding gene	Chr17:20792817-20821208 (+)
NZO/HlLtJ	ENSMUSG00225052201	protein coding gene	Chr17:26223202-26251585 (+)
PWK/PhJ	ENSLUMG00010053197	protein coding gene	Chr17:20265787-20294543 (+)
SPRET/EiJ	ENSMSPG00010048785	protein coding gene	Chr17:21597094-21625466 (+)
WSB/EiJ	ENSIUOG00005045557	protein coding gene	Chr17:21541430-21569831 (+)

Human Ortholog

CLCN7, Cl-/H+ antiporter 7

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CLCN7, Cl-/H+ antiporter 7
Synonyms

CLC-7, CLC7, HOD, OPTA2, OPTB4, PPP1R63
Links

HGNC:2025

NCBI Gene ID: 1186

UniProt: P51798
Chr Location

16p13.3; chr16:1444934-1475104 (-) GRCh38

MGI Vertebrate Homology

Clcn7 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CLCN7
Gene Tree

Clcn7

Diseases

2 with Clcn7 mouse models; 2 with human CLCN7 associations

Human Disease

Mouse Models

autosomal dominant osteopetrosis 2

IDs

View 7 models

autosomal recessive osteopetrosis 4

IDs

View 2 models

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

6 with disease annotations

References

4 with disease annotations

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Phenotype Summary

78 phenotypes from 11 alleles in 18 genetic backgrounds
8 phenotypes from multigenic genotypes
33 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

23
Endonuclease-mediated

4
Gene trapped

5
Radiation induced

2
Targeted

12
Genomic Mutations

2 involving Clcn7
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

42 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells.

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All GO Annotations

26
GO References

10

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

692
Tissues

28
cDNA Data

124
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase clcn7

ZFIN clcn7

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All Sequences

116
RefSeq

6
UniProt

8
CCDS

CCDS28509.1, CCDS84282.1

Ensembl

ENSMUSG00000036636 (Evidence)
NCBI Gene

26373

			Length	Strain/Species	Flank
genomic	ENSMUSG00000036636	Ensembl Gene Model \| MGI Sequence Detail	28714	C57BL/6J	± kb
transcript	ENSMUST00000162862	Ensembl \| MGI Sequence Detail	4237	Not Applicable
polypeptide	ENSMUSP00000124527	Ensembl \| MGI Sequence Detail	860	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000005534 H(+)/Cl(-) exchange transporter 7

(term hierarchy)
InterPro Domains

IPR000644 CBS domain

IPR046342 CBS domain superfamily

IPR001807 Chloride channel

IPR014743 Chloride channel, core

IPR002249 H(+)/Cl(-) exchange transporter 7

IPR051280 Voltage-gated chloride channel/antiporter
GlyGen

O70496 1 site, 1 N-linked glycan (1 site)

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All nucleic 128

Genomic 1

cDNA 124

Primer pair 3

Microarray probesets 7

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MGD-MRK-33977, MGI:106285, MGI:2146761, MGI:2147072

Summaries

All 81

Developmental Gene Expression 6

Diseases 4

Gene Ontology 10

Phenotypes 33
Earliest

J:50869 Ko MSH, et al., Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome. Hum Mol Genet. 1998 Nov;7(12):1967-78
Latest

J:362942 Chen X, et al., Metabolomics study of osteopetrosis caused by CLCN7 mutation reveals novel pathway and potential biomarkers. Front Endocrinol (Lausanne). 2024;15:1418932

TSS for Clcn7:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr143131	Chr17:25352359-25352408 (+)	19 bp
Tssr143132	Chr17:25352415-25352434 (+)	60 bp
Tssr143133	Chr17:25354920-25354925 (+)	2,558 bp
Tssr143134	Chr17:25355394-25355439 (+)	3,052 bp
Tssr143135	Chr17:25355582-25355591 (+)	3,222 bp
Tssr143136	Chr17:25355634-25355638 (+)	3,271 bp
Tssr143137	Chr17:25355680-25355693 (+)	3,322 bp
Tssr143138	Chr17:25358902-25358912 (+)	6,542 bp
Tssr143139	Chr17:25364540-25364589 (+)	12,200 bp

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 09/15/2026 MGI 6.29