C57BL/6JCya-Clcn7em1flox/Cya
Common Name:
Clcn7-flox
Product ID:
S-CKO-09540
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Clcn7-flox
Strain ID
CKOCMP-26373-Clcn7-B6J-VA
Gene Name
Product ID
S-CKO-09540
Gene Alias
ClC-7; D17Wsu51e
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
17
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Clcn7em1flox/Cya mice (Catalog S-CKO-09540) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000040729
NCBI RefSeq
NM_011930
Target Region
Exon 2~5
Size of Effective Region
~2.4 kb
Detailed Document
Overview of Gene Research
Clcn7, encoding the chloride/proton-exchanger ClC-7, is crucial for multiple physiological processes. It functions in the biosynthesis of PI(3,5)P2 by its regulation related to the phosphatase FIG4 and the scaffold protein VAC14 [1]. In osteoclasts, it enables efficient proton transport into the resorption lacuna by providing a negative counter-ion [2]. In most cell types other than osteoclasts, ClC-7 is located in late endosomes and lysosomes, participating in intravesicular ion homeostasis [2].
In Fig4 null cell cultures, knockout of Clcn7 corrected lysosomal swelling and partially corrected lysosomal hyperacidification. In the Fig4 null mouse, reduction of ClC-7 by expressing the dominant-negative CLCN7 variant p.Gly215Arg improved growth, neurological function, and increased lifespan by 20% [1]. Also, in Clcn7 knockout mice, an osteopetrosis phenotype was observed, suggesting ClC-7's role in bone resorption as it might be responsible for transporting the negative charge required for efficient proton transport in osteoclasts [2].
In conclusion, Clcn7 is essential for lysosomal function and bone resorption. The gene knockout mouse models have revealed its significant roles in lysosome-related disorders such as those associated with FIG4 and VAC14 deficiencies, and in osteopetrosis. Understanding Clcn7's function provides potential new targets for treating related diseases that lack specific therapies [1,2].
References:
1. Cao, Xu, Lenk, Guy M, Mikusevic, Vedrana, Mindell, Joseph A, Meisler, Miriam H. 2023. The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants. In PLoS genetics, 19, e1010800. doi:10.1371/journal.pgen.1010800. https://pubmed.ncbi.nlm.nih.gov/37363915/
2. Stauber, Tobias, Wartosch, Lena, Vishnolia, Svenja, Schulz, Ansgar, Kornak, Uwe. 2022. CLCN7, a gene shared by autosomal recessive and autosomal dominant osteopetrosis. In Bone, 168, 116639. doi:10.1016/j.bone.2022.116639. https://pubmed.ncbi.nlm.nih.gov/36513280/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen