C57BL/6NCya-Cacna1hem1flox/Cya
Common Name:
Cacna1h-flox
Product ID:
S-CKO-12414
Background:
C57BL/6NCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Cacna1h-flox
Strain ID
CKOCMP-58226-Cacna1h-B6N-VA
Gene Name
Product ID
S-CKO-12414
Gene Alias
Cav3.2; MNCb-1209; alpha13.2
Background
C57BL/6NCya
NCBI ID
Modification
Conditional knockout
Chromosome
17
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6NCya-Cacna1hem1flox/Cya mice (Catalog S-CKO-12414) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000078496
NCBI RefSeq
NM_021415
Target Region
Exon 6
Size of Effective Region
~0.7 kb
Detailed Document
Overview of Gene Research
CACNA1H encodes the pore-forming alpha-1H subunit of the voltage-dependent T-type calcium channel CaV3.2. It is an important component in electrical and intracellular calcium oscillations, which are involved in regulating various biological processes. These oscillations govern aldosterone production in the zona glomerulosa of the adrenal cortex, playing a key role in electrolyte homeostasis and blood pressure regulation. Additionally, it may be related to calcium-dependent neuronal processes and cytoskeletal organization [1,3,4].
In mouse models, Cacna1h mutants exhibit tracheal stenosis, disorganized tracheal smooth muscle (SM) and compromised tracheal contraction. CACNA1H is essential for maintaining actin polymerization required for tracheal SM organization and tube formation, and this process may be partially mediated through RhoA activation. Analysis of human tracheal tissues also indicates its association with congenital tracheostenosis [3]. In a Dravet Syndrome mouse model, Cacna1h did not modify survival, but mice with reduced Cacna1h expression showed a mild increase in susceptibility to hyperthermia-induced seizures, suggesting limited evidence for its role as a monogenic cause of epilepsy in humans [2].
In conclusion, CACNA1H is crucial for processes such as aldosterone production, tracheal smooth muscle formation, and potentially neuronal function. Mouse models have been valuable in revealing its role in tracheal development and its limited connection to epilepsy. Understanding CACNA1H provides insights into diseases like primary aldosteronism and congenital tracheostenosis [1,2,3].
References:
1. Dinh, Hoang An, Stölting, Gabriel, Scholl, Ute I. . CaV3.2 (CACNA1H) in Primary Aldosteronism. In Handbook of experimental pharmacology, 279, 249-262. doi:10.1007/164_2023_660. https://pubmed.ncbi.nlm.nih.gov/37311830/
2. Calhoun, Jeffrey D, Huffman, Alexandra M, Bellinski, Irena, Kearney, Jennifer A, Carvill, Gemma L. 2020. CACNA1H variants are not a cause of monogenic epilepsy. In Human mutation, 41, 1138-1144. doi:10.1002/humu.24017. https://pubmed.ncbi.nlm.nih.gov/32227660/
3. Liu, Ziying, Lu, Chunyan, Ma, Li, Stainier, Didier Y R, Yin, Wenguang. 2024. The T-Type Calcium Channel CACNA1H is Required for Smooth Muscle Cytoskeletal Organization During Tracheal Tubulogenesis. In Advanced science (Weinheim, Baden-Wurttemberg, Germany), 11, e2308622. doi:10.1002/advs.202308622. https://pubmed.ncbi.nlm.nih.gov/39360593/
4. Viggiano, Marta, D'Andrea, Tiziano, Cameli, Cinzia, Maestrini, Elena, Bacchelli, Elena. 2022. Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility. In Frontiers in psychiatry, 13, 858238. doi:10.3389/fpsyt.2022.858238. https://pubmed.ncbi.nlm.nih.gov/35350424/
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