Preliminary Functional Studies of an Understudied NDD Gene in Mice

项目总结/摘要 神经发育障碍是常见的使人衰弱的障碍，包括自闭症、智力障碍和自闭症。 甚至可能是精神分裂症最近的遗传学发现已经确定了多种基因的突变， 细胞通路作为罕见神经发育障碍（包括自闭症谱系）的遗传原因 精神障碍、智力残疾和其他。该提案将描述一种新的遗传小鼠模型， 已经产生了我们的实验室和育种在我们的实验室，描绘的功能， 未被充分研究的疾病基因具体来说，该提案将涉及一个明确定义的基因， 神经发育障碍我们建议在这个小鼠模型中获得初步的行为数据， 多个ID相关、ASD相关和控制行为任务。同时，我们将获得初步的单一 核RNA-seq转录组学数据，并进行初步分析，同时还检查了一个特定的 染色质修饰，我们预测将在遗传突变小鼠模型中改变。这些无偏见的， 初步，实验将确定新的下游目标在哺乳动物大脑，阐明行为 未来研究的结果测量，并产生新的假设，预计导致未来的潜力 治疗策略

Project Summary/Abstract Neurodevelopmental disorders are common, debilitating disorders including autism, intellectual disability, and perhaps even schizophrenia. Recent genetic findings have identified mutations in multiple genes in various cellular pathways as genetic causes of rare neurodevelopmental disorders including autism spectrum disorders, intellectual disability, and others. This proposal will characterize a novel genetic mouse model, already generated by our laboratory and breeding in our laboratory, to delineate the function of a relatively understudied disease gene in the brain. Specifically, the proposal will be on a gene implicated in a well-defined neurodevelopmental disorder. We propose to obtain preliminary behavioral data in this mouse model on multiple ID-related, ASD-related, and control behavioral tasks. In parallel, we will obtain preliminary single nucleus RNA-seq transcriptomics data and perform preliminary analyses while also examining a specific chromatin modification that we predict will be altered in the genetic mutant mouse model. These unbiased, preliminary, experiments will identify novel downstream targets in mammalian brain, elucidate behavioral outcome measures for future studies, and generate new hypotheses anticipated to lead to future potential therapeutic strategies.