C57BL/6JCya-Scn5aem1flox/Cya
Common Name:
Scn5a-flox
Product ID:
S-CKO-04935
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Scn5a-flox
Strain ID
CKOCMP-20271-Scn5a-B6J-VA
Gene Name
Product ID
S-CKO-04935
Gene Alias
Nav1.5; Nav1.5c; SkM1; SkM2; mH1
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
9
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Scn5aem1flox/Cya mice (Catalog S-CKO-04935) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000117911
NCBI RefSeq
NM_021544
Target Region
Exon 3
Size of Effective Region
~1.2 kb
Detailed Document
Overview of Gene Research
SCN5A, encoding the alpha subunit of the cardiac sodium channel Nav1.5, is crucial for the generation and propagation of the action potential in cardiomyocytes. Influx of sodium ions through voltage-gated sodium channels it codes for is essential for proper electrical conduction within the heart [1,4].
SCN5A mutations are associated with a variety of cardiac disorders. In Brugada syndrome (BrS), SCN5A variants are found in about 20%-25% of patients. Compared to SCN5A-negative BrS patients, SCN5A-positive ones more frequently have spontaneous type 1 electrocardiogram, history of syncope, and documented arrhythmias, along with longer PQ and QRS intervals. The presence of SCN5A rare variants is significantly associated with the risk of major arrhythmic events in BrS patients [2]. SCN5A-related etiology also shows greater electrophysiological abnormalities in BrS patients, such as conduction disorder [3]. Moreover, SCN5A mutations may be linked to cardiomyopathy, though the pathways remain unclear [4].
In conclusion, SCN5A is vital for cardiac electrical conduction. Studies on SCN5A, especially through research on its variants in diseases like Brugada syndrome and potential links to cardiomyopathy, have enhanced our understanding of cardiac channelopathies. These insights may contribute to better risk assessment and treatment strategies for related cardiac disorders.
References:
1. Remme, Carol Ann. 2023. SCN5A channelopathy: arrhythmia, cardiomyopathy, epilepsy and beyond. In Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 378, 20220164. doi:10.1098/rstb.2022.0164. https://pubmed.ncbi.nlm.nih.gov/37122208/
2. Doundoulakis, Ioannis, Pannone, Luigi, Chiotis, Sotirios, Chierchia, Gian Battista, de Asmundis, Carlo. 2024. SCN5A gene variants and arrhythmic risk in Brugada syndrome: An updated systematic review and meta-analysis. In Heart rhythm, 21, 1987-1997. doi:10.1016/j.hrthm.2024.04.047. https://pubmed.ncbi.nlm.nih.gov/38614189/
3. Deica, Andreea Valentina, Paduraru, Livia Florentina, Paduraru, Dan Nicolae, Andronic, Octavian. 2022. The SCN5A Gene Is a Predictor of Phenotype Severity in Brugada Syndrome: A Comprehensive Literature Review. In Medical principles and practice : international journal of the Kuwait University, Health Science Centre, 32, 1-8. doi:10.1159/000528375. https://pubmed.ncbi.nlm.nih.gov/36446338/
4. Vouloagkas, Ioannis, Agbariah, Andrea, Zegkos, Thomas, Ziakas, Antonios, Efthimiadis, Georgios K. 2024. The many faces of SCN5A pathogenic variants: from channelopathy to cardiomyopathy. In Heart failure reviews, 30, 247-256. doi:10.1007/s10741-024-10459-x. https://pubmed.ncbi.nlm.nih.gov/39465469/
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