C57BL/6JCya-Clcn2em1/Cya
Common Name:
Clcn2-KO
Product ID:
S-KO-17980
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Clcn2-KO
Strain ID
KOCMP-12724-Clcn2-B6J-VA
Gene Name
Product ID
S-KO-17980
Gene Alias
ClC-2; Clc2; nmf240
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
16
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Clcn2em1/Cya mice (Catalog S-KO-17980) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000007207
NCBI RefSeq
NM_009900.2
Target Region
Exon 2~10
Size of Effective Region
~2.8 kb
Detailed Document
Overview of Gene Research
Clcn2, encoding a two-pore homodimeric chloride channel protein (CLC-2), is widely expressed in human tissues and is fundamental in ion and water brain homeostasis [3,4]. It may be involved in maintaining the balance of chloride ions in cells, which is related to many physiological functions. Loss-of-function mutations in Clcn2 have been linked to various disorders, highlighting its biological importance in normal physiological function [1-7,9].
Loss-of-function mutations in the Clcn2 gene are associated with CLCN2-related leukoencephalopathy (CC2L), a type of leukodystrophy characterized by intramyelinic edema [1]. Patients with CC2L may present with symptoms such as hand tremor, scanning speech, nystagmus, cerebellar ataxia, memory decline, tinnitus, dizziness, and macular atrophy [1]. Brain MRI shows diffuse white matter involvement of specific white matter tracts [1]. Additionally, germline mutations in Clcn2 have been described as a cause of familial hyperaldosteronism type II, and somatic (tumor-specific) mutations have been identified in aldosterone-producing adenomas [2,5]. Biallelic Clcn2 mutations can cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function [3].
In conclusion, Clcn2 plays a crucial role in maintaining ion and water balance in the brain, and its dysfunction is associated with CC2L, familial hyperaldosteronism type II, and retinal degeneration. The study of Clcn2-related loss-of-function mutations in these diseases helps to understand the underlying pathophysiological mechanisms and may provide potential targets for diagnosis and treatment.
References:
1. Guo, Zhuoxin, Lu, Tingting, Peng, Lisheng, Chen, Shaoqiong, Qiu, Wei. 2019. CLCN2-related leukoencephalopathy: a case report and review of the literature. In BMC neurology, 19, 156. doi:10.1186/s12883-019-1390-7. https://pubmed.ncbi.nlm.nih.gov/31291907/
2. Scholl, Ute I. . CLCN2 clicks with aldosterone-producing adenomas, too! In European journal of endocrinology, 181, C21-C22. doi:10.1530/EJE-19-0688. https://pubmed.ncbi.nlm.nih.gov/31585437/
3. Xu, Ping, Chen, Zhuolin, Ma, Jianchi, Peng, Fuhua, Zhong, Xiufeng. 2023. Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function. In Human genetics, 142, 577-593. doi:10.1007/s00439-023-02531-7. https://pubmed.ncbi.nlm.nih.gov/36964785/
4. Abreu, Vasco Sousa, Tarrio, João, Pinto, Eduarda, Figueiroa, Sónia, Alves, José E. 2022. Brain imaging findings in CLCN2-related leukoencephalopathy. In Pediatric radiology, 53, 1027-1032. doi:10.1007/s00247-022-05577-3. https://pubmed.ncbi.nlm.nih.gov/36565320/
5. Scholl, Ute I. 2022. Genetics of Primary Aldosteronism. In Hypertension (Dallas, Tex. : 1979), 79, 887-897. doi:10.1161/HYPERTENSIONAHA.121.16498. https://pubmed.ncbi.nlm.nih.gov/35139664/
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