C57BL/6JCya-Scn2aem1flox/Cya
Common Name:
Scn2a-flox
Product ID:
S-CKO-00900
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Scn2a-flox
Strain ID
CKOCMP-110876-Scn2a-B6J-VA
Gene Name
Product ID
S-CKO-00900
Gene Alias
6430408L10; A230052E19Rik; Nav1.2; Scn2a1
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
2
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Scn2aem1flox/Cya mice (Catalog S-CKO-00900) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000100067
NCBI RefSeq
NM_001099298
Target Region
Exon 4~6
Size of Effective Region
~2.8 kb
Detailed Document
Overview of Gene Research
Scn2a, encoding the neuronal sodium channel NaV1.2, is crucial for action potential initiation and propagation in developing excitatory cortical neurons. It plays a role in multiple biological processes related to neural function, and its dysfunction is associated with various neurodevelopmental disorders [2,5].
Pathogenic variants in Scn2a are linked to a spectrum of neurodevelopmental disorders such as developmental and epileptic encephalopathies, benign familial neonatal-infantile seizures, episodic ataxia, and autism spectrum disorder with or without intellectual disability [1,2,3,4]. Functional analysis of channel defects has demonstrated a genotype-phenotype correlation [3]. In mice, loss of Scn2a-encoded NaV1.2 sodium channels in granule cells impaired high-frequency transmission to Purkinje cells and long-term potentiation, leading to hypersensitized vestibulo-ocular reflex, a sensorimotor reflex alteration seen in autism spectrum disorder [6].
In conclusion, Scn2a is essential for neural function, with its role in action potential regulation and synaptic plasticity. Studies on Scn2a, especially through loss-of-function models like in mice, have provided insights into its contribution to various neurodevelopmental disorders, highlighting its significance in understanding the underlying mechanisms of these diseases [6].
References:
1. Reynolds, Claire, King, Mary D, Gorman, Kathleen M. 2019. The phenotypic spectrum of SCN2A-related epilepsy. In European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 24, 117-122. doi:10.1016/j.ejpn.2019.12.016. https://pubmed.ncbi.nlm.nih.gov/31924505/
2. Sanders, Stephan J, Campbell, Arthur J, Cottrell, Jeffrey R, Spiro, John E, Bender, Kevin J. 2018. Progress in Understanding and Treating SCN2A-Mediated Disorders. In Trends in neurosciences, 41, 442-456. doi:10.1016/j.tins.2018.03.011. https://pubmed.ncbi.nlm.nih.gov/29691040/
3. Hedrich, Ulrike B S, Lauxmann, Stephan, Lerche, Holger. . SCN2A channelopathies: Mechanisms and models. In Epilepsia, 60 Suppl 3, S68-S76. doi:10.1111/epi.14731. https://pubmed.ncbi.nlm.nih.gov/31904120/
4. Wolff, Markus, Brunklaus, Andreas, Zuberi, Sameer M. . Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond. In Epilepsia, 60 Suppl 3, S59-S67. doi:10.1111/epi.14935. https://pubmed.ncbi.nlm.nih.gov/31904126/
5. Spratt, Perry W E, Ben-Shalom, Roy, Keeshen, Caroline M, Sanders, Stephan J, Bender, Kevin J. 2019. The Autism-Associated Gene Scn2a Contributes to Dendritic Excitability and Synaptic Function in the Prefrontal Cortex. In Neuron, 103, 673-685.e5. doi:10.1016/j.neuron.2019.05.037. https://pubmed.ncbi.nlm.nih.gov/31230762/
6. Wang, Chenyu, Derderian, Kimberly D, Hamada, Elizabeth, Bouvier, Guy, Bender, Kevin J. 2024. Impaired cerebellar plasticity hypersensitizes sensory reflexes in SCN2A-associated ASD. In Neuron, 112, 1444-1455.e5. doi:10.1016/j.neuron.2024.01.029. https://pubmed.ncbi.nlm.nih.gov/38412857/
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