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C57BL/6JCya-Cacna1cem1/Cya
Common Name:
Cacna1c-KO
Product ID:
S-KO-01281
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Cacna1c-KO
Strain ID
KOCMP-12288-Cacna1c-B6J-VA
Gene Name
Cacna1c
Product ID
S-KO-01281
Gene Alias
Cav1.2; Cchl1a1; D930026N18Rik; MBC; MELC-CC
Background
C57BL/6JCya
NCBI ID
12288
Modification
Conventional knockout
Chromosome
6
Phenotype
MGI:103013
Document
Click here to download >>
Application
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More
Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Cacna1cem1/Cya mice (Catalog S-KO-01281) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000112793
NCBI RefSeq
NM_001256002.2
Target Region
Exon 2
Size of Effective Region
~0.3 kb
Detailed Document
Click here to download >>
Overview of Gene Research
CACNA1C encodes the pore-forming subunit of the CaV1.2 L-type Ca2+ channel, a crucial component in membrane physiology across multiple tissues like the heart, brain, and immune system [1]. This channel is involved in various cellular functions related to calcium ion transmembrane processes. Genetic models, such as gene knockout (KO) or conditional knockout (CKO) mouse models, can be valuable in studying its function.

Mutations in CACNA1C are associated with a wide range of disorders. Timothy syndrome (TS), a severe multisystem disorder with neurodevelopmental deficits, long-QT syndrome, cardiac arrhythmias, craniofacial abnormalities, and immune deficits, was the first disorder linked to CACNA1C mutations [1]. Heterozygous variants can also cause isolated neurological manifestations like developmental delays, intellectual disability, autism, hypotonia, ataxia, and epilepsy [2]. Functional studies of missense variants via patch-clamp experiments demonstrated differential effects on channel function in vitro, including loss of function, neutral effect, and gain of function [2]. Large-scale genome-wide association studies have shown that genetic variation in CACNA1C increases the risk for psychiatric disorders, and its reduced gene dosage impacts adult hippocampal neurogenesis [3]. Meta-analysis indicates that CACNA1C (rs1006737) may be a susceptibility gene for schizophrenia [4]. Pharmacoepidemiological evidence suggests that calcium channel blockers targeting L-type calcium channels (LTCCs) encoded by CACNA1C might have beneficial effects on psychiatric disorders [5]. In Cacna1c± male rats, distinct brain activation patterns occur after appetitive extinction and renewal despite preserved behavioral responses [6].

In conclusion, CACNA1C is essential for membrane physiology in multiple tissues. Model-based research, especially through KO/CKO mouse models, has revealed its significant roles in various disease conditions, including neurological and psychiatric disorders. Understanding CACNA1C function provides insights into the mechanisms of these diseases, potentially guiding new treatment strategies.

References:

1. Herold, Kevin G, Hussey, John W, Dick, Ivy E. . CACNA1C-Related Channelopathies. In Handbook of experimental pharmacology, 279, 159-181. doi:10.1007/164_2022_624. https://pubmed.ncbi.nlm.nih.gov/36598608/

2. Rodan, Lance H, Spillmann, Rebecca C, Kurata, Harley T, Au, Ping Yee Billie, Shashi, Vandana. 2021. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. In Genetics in medicine : official journal of the American College of Medical Genetics, 23, 1922-1932. doi:10.1038/s41436-021-01232-8. https://pubmed.ncbi.nlm.nih.gov/34163037/

3. Moon, Anna L, Haan, Niels, Wilkinson, Lawrence S, Thomas, Kerrie L, Hall, Jeremy. . CACNA1C: Association With Psychiatric Disorders, Behavior, and Neurogenesis. In Schizophrenia bulletin, 44, 958-965. doi:10.1093/schbul/sby096. https://pubmed.ncbi.nlm.nih.gov/29982775/

4. Zhu, Dongjian, Yin, Jingwen, Liang, Chunmei, Wang, Yajun, Ma, Guoda. 2019. CACNA1C (rs1006737) may be a susceptibility gene for schizophrenia: An updated meta-analysis. In Brain and behavior, 9, e01292. doi:10.1002/brb3.1292. https://pubmed.ncbi.nlm.nih.gov/31033230/

5. Harrison, Paul J, Husain, Syed M, Lee, Hami, Haerty, Wilfried, Tunbridge, Elizabeth M. 2022. CACNA1C (CaV1.2) and other L-type calcium channels in the pathophysiology and treatment of psychiatric disorders: Advances from functional genomics and pharmacoepidemiology. In Neuropharmacology, 220, 109262. doi:10.1016/j.neuropharm.2022.109262. https://pubmed.ncbi.nlm.nih.gov/36154842/

6. Gasalla, Patricia, Manahan-Vaughan, Denise, Dwyer, Dominic Michael, Hall, Jeremy, Méndez-Couz, Marta. 2023. Characterisation of the neural basis underlying appetitive extinction & renewal in Cacna1c rats. In Neuropharmacology, 227, 109444. doi:10.1016/j.neuropharm.2023.109444. https://pubmed.ncbi.nlm.nih.gov/36724867/

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
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