C57BL/6NCya-Clcn6em1flox/Cya
Common Name:
Clcn6-flox
Product ID:
S-CKO-09539
Background:
C57BL/6NCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Clcn6-flox
Strain ID
CKOCMP-26372-Clcn6-B6N-VA
Gene Name
Product ID
S-CKO-09539
Gene Alias
Clc6
Background
C57BL/6NCya
NCBI ID
Modification
Conditional knockout
Chromosome
4
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6NCya-Clcn6em1flox/Cya mice (Catalog S-CKO-09539) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000030879
NCBI RefSeq
NM_011929
Target Region
Exon 6
Size of Effective Region
~0.9 kb
Detailed Document
Overview of Gene Research
Clcn6, encoding the ClC-6 Cl⁻/H⁺ -exchanger, is a member of the CLC family of voltage-gated chloride channels. It is involved in the endosomal-lysosomal pathway, where it functions as an electric shunt for proton pumping and in luminal Cl⁻ accumulation, playing a crucial role in maintaining endolysosomal ion homeostasis [3].
Knock-out of Clcn6 on the Dahl Salt-Sensitive (SS) rat background led to lower diastolic blood pressure, suggesting its role in blood pressure regulation. The loss of Clcn6 also affected the mRNA expression of nearby genes like Mthfr, Nppa, and Nppb in the AGTRAP-PLOD1 locus [2]. In a mouse model of a patient-derived Clcn6 variant (p.E200A), severe neurodegeneration with features of neuronal ceroid lipofuscinoses (NCLs) was observed. Mutant ClC-6E200A blocked autophagic flux, activated transcription factors EB (TFEB) and E3 (TFE3), and increased lysosomal biogenesis by suppressing mTORC1-TFEB signaling [1].
In conclusion, Clcn6 is essential for maintaining endolysosomal ion homeostasis and is involved in blood pressure regulation and autophagic-lysosomal function. Mouse models, such as the Clcn6 knockout and knock-in models, have been instrumental in revealing its role in neurodegenerative diseases like NCLs and in blood pressure-related physiological processes [1,2].
References:
1. He, Hailan, Cao, Xiaoshuang, He, Fang, Stauber, Tobias, Peng, Jing. 2024. Mutations in CLCN6 as a Novel Genetic Cause of Neuronal Ceroid Lipofuscinosis in Patients and a Murine Model. In Annals of neurology, 96, 608-624. doi:10.1002/ana.27002. https://pubmed.ncbi.nlm.nih.gov/38877824/
2. Klemens, Christine A, Dissanayake, Lashodya V, Levchenko, Vladislav, Palygin, Oleg, Staruschenko, Alexander. . Modulation of blood pressure regulatory genes in the Agtrap-Plod1 locus associated with a deletion in Clcn6. In Physiological reports, 10, e15417. doi:10.14814/phy2.15417. https://pubmed.ncbi.nlm.nih.gov/35927940/
3. Polovitskaya, Maya M, Barbini, Carlo, Martinelli, Diego, Tartaglia, Marco, Jentsch, Thomas J. 2020. A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration. In American journal of human genetics, 107, 1062-1077. doi:10.1016/j.ajhg.2020.11.004. https://pubmed.ncbi.nlm.nih.gov/33217309/
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