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首页> 外文期刊>International Journal of Environmental Research and Public Health >Mouse Models of Mutations and Variations in Autism Spectrum Disorder-Associated Genes: Mice Expressing Caps2/Cadps2 Copy Number and Alternative Splicing Variants
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Mouse Models of Mutations and Variations in Autism Spectrum Disorder-Associated Genes: Mice Expressing Caps2/Cadps2 Copy Number and Alternative Splicing Variants

机译：突变的小鼠模型和自闭症谱系紊乱相关基因的变化：表达CAPS2 / CADPS2拷贝数和替代剪接变体的小鼠

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Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by disturbances in interpersonal relationships and behavior. Although the prevalence of autism is high, effective treatments have not yet been identified. Recently, genome-wide association studies have identified many mutations or variations associated with ASD risk on many chromosome loci and genes. Identification of the biological roles of these mutations or variations is necessary to identify the mechanisms underlying ASD pathogenesis and to develop clinical treatments. At present, mice harboring genetic modifications of ASD-associated gene candidates are the best animal models to analyze hereditary factors involved in autism. In this report, the biological significance of ASD-associated genes is discussed by examining the phenotypes of mouse models with ASD-associated mutations or variations in mouse homologs, with a focus on mice harboring genetic modifications of the Caps2/Cadps2 (Ca2+-dependent activator protein for secretion 2) gene.
机译：自闭症谱系障碍（ASD）是一种神经发育障碍，其特征在于人际关系和行为中的干扰。虽然自闭症的患病率是高的，但尚未确定有效的治疗。最近，基因组 - 范围的关联研究已经确定了许多与许多染色体基因座和基因的亚眠风险相关的突变或变化。鉴定这些突变或变化的生物学作用是必要的，以鉴定亚本疗作用的机制和发展临床治疗方法。目前，封存ASD相关基因候选物的遗传修饰的小鼠是分析患有自闭症的遗传因素的最佳动物模型。在本报告中，通过将小鼠模型的表型与小鼠同源物的变化检查小鼠模型的表型或小鼠同源物的变化来讨论了ASD-相关基因的生物学意义，重点是围绕CAPS2 / CADPS2的遗传修饰的小鼠（CA2 +依赖活化剂分泌2）基因的蛋白质。

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