Article
Generation and basic characterization of a gene-trap knockout mouse model of Scn2a with a substantial reduction of voltage-gated sodium channel Nav 1.2 expression.
Genes, brain, and behavior - 1 Apr 2021
Eaton Muriel, Zhang Jingliang, Ma Zhixiong, Park Anthony C, Lietzke Emma, Romero Chloé M, Liu Yushuang, Coleman Emily R, Chen Xiaoling, Xiao Tiange, Que Zhefu, Lai Shirong, Wu Jiaxiang, Lee Ji Hea, Palant Sophia, Nguyen Huynhvi P, Huang Zhuo, Skarnes William C, Koss Wendy A, Yang Yang
Abstract excerpt
Large-scale genetic studies revealed SCN2A as one of the most frequently mutated genes in patients with neurodevelopmental disorders. SCN2A encodes for the voltage-gated sodium channel isoform 1.2 (Nav 1.2) expressed in the neurons of the central nervous system. Homozygous knockout (null) of Scn2a in mice is perinatal lethal, whereas heterozygous knockout of Scn2a (Scn2a+/- ) results in mild behavior...
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