Scn1a-KO Mouse
Product Name
Scn1a-KO Mouse
Product ID
C002015
Strain Name
C57BL/6JCya-Scn1aem1/Cya
Backgroud
C57BL/6JCya
Status
When using this mouse strain in a publication, please cite “Scn1a-KO Mouse (Catalog C002015) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Gene Name
Scn1a
Gene Alias
Nav1.1, B230332M13
NCBI ID
Chromosome
Chr 2 (Mouse)
MGI ID
Datasheet
Strain Description
The SCN1A gene encodes the α subunit of the voltage-gated sodium channel Nav1.1, which is a critical gene for maintaining neuronal excitability regulation and neural signal transmission. Loss-of-function mutations in SCN1A are closely associated with various epilepsy syndromes, with Dravet syndrome (DS) being the most typical example [1]. SCN1A mutations primarily affect GABAergic inhibitory interneurons, leading to impaired inhibitory neural circuits, disruption of the excitation/inhibition (E/I) balance, and increased epilepsy susceptibility [2].
Scn1a-KO mice recapitulate epilepsy phenotypes associated with SCN1A loss-of-function by deleting the mouse Scn1a gene. These models are suitable for anti-epileptic drug screening, validation of SCN1A gene therapy strategies, investigation of epilepsy pathogenesis, and intervention studies of neuropsychiatric comorbidities.
Homozygous Scn1a knockout mice typically exhibit severe neurological abnormalities, including early postnatal lethality, seizures, and pronounced behavioral deficits. Heterozygous knockout mice display spontaneous seizures, premature death, and abnormal neurophysiological activity. Therefore, when studying SCN1A-related disorders, conditional knockout strategies are recommended. These approaches enable tissue- or cell-type-specific regulation of Scn1a deletion, allowing further dissection of how Nav1.1 functional deficits in different neural circuits contribute to epilepsy and associated neurobehavioral abnormalities.
Reference
Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R; Genomics England Research Consortium; Brunklaus A, Guerrini R, Koeleman BPC, Lemke JR, Møller RS, Scheffer IE, Weckhuysen S, Zara F, Zuberi S, Kuchenbaecker K, Balestrini S, Mills JD, Sisodiya SM. Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition. Brain. 2023 Sep 1;146(9):3885-3897.
Mattei C, Mao M, Byars S, Syazwan EM, Oliva M, Karle TJ, Richards K, Scheffer IE, Petrou S, Maljevic S. Disrupted inhibitory interneuron development in SCN1A Dravet syndrome revealed by patient-derived subpallial organoids. Epilepsia. 2026 May 5.
Strain Strategy
The Scn1a gene is located on chromosome 2 of mice and contains a total of 26 exons. Gene editing technology was used to knock out the region of exon 2 of this gene.
Figure 1. Diagram of the gene editing strategy for the generation of Scn1a-KO mice.
Application Area
Anti-epileptic drug screening: Used to evaluate the therapeutic efficacy and safety of novel anti-epileptic drugs (e.g., fenfluramine, stiripentol) on thermally induced seizures, spontaneous seizures, and related neurological dysfunctions;
Validation of gene therapy strategies: Used to assess the therapeutic potential of AAV-mediated SCN1A gene replacement therapy, gene editing repair strategies, and transcriptional activation technologies after disease onset;
Epilepsy pathogenesis research: Used to investigate the mechanisms by which SCN1A deficiency leads to reduced excitability of GABAergic interneurons, abnormal inhibitory synaptic transmission, and excitation/inhibition imbalance in neural networks during epilepsy development;
Neuropsychiatric comorbidity research: Used to study the mechanisms and intervention effects of Dravet syndrome (DS)-associated neuropsychiatric comorbidities, including cognitive impairment, abnormal social behavior, anxiety-like behavior, and motor dysfunction;
Disease reversibility research: Used to explore whether restoring Nav1.1 protein expression levels after the appearance of disease phenotypes can reverse epileptic phenotypes, reduce the risk of sudden unexpected death in epilepsy (SUDEP), and improve cognitive and behavioral deficits.
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