Scn1a-KO Mouse
製品名
Scn1a-KO Mouse
製品ID
C002015
系統名
C57BL/6JCya-Scn1aem1/Cya
背景情報
C57BL/6JCya
状況
このマウス系統を論文で使用する場合は、「Scn1a-KO Mouse（カタログ番号C002015）はサイアジェンから購入しました。」と引用してください。
製品タイプ
年齢
遺伝子型
性別
数量
遺伝子名
遺伝子別名
Nav1.1, B230332M13
NCBI ID
染色体
Chr 2
MGI ID
さらに
系統詳細
The SCN1A gene encodes the α subunit of the voltage-gated sodium channel Nav1.1, which plays a critical role in regulating neuronal excitability and synaptic transmission. Loss-of-function mutations in SCN1A are closely associated with various epilepsy syndromes, most notably Dravet syndrome (DS) [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].
The Scn1a-KO mouse model was generated by using gene-editing technology to delete exon 2 of the murine Scn1a gene. This strain is homozygous lethal, with heterozygotes also exhibiting premature mortality. It is suitable for antiepileptic drug screening, validation of SCN1A gene therapy strategies, investigation of epileptogenesis, and research on interventions for neuropsychiatric comorbidities.
参考文献
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.
系統作製戦略
The murine Scn1a gene, located on chromosome 2, comprises 26 exons. Exon 2 of this gene was targeted for deletion using gene-editing technology.
Figure 1. Diagram of the gene editing strategy for the generation of Scn1a-KO mice.
適用分野
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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