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Preliminary Functional Studies of an Understudied NDD Gene in Mice

小鼠中待研究的 NDD 基因的初步功能研究

基本信息

批准号：
10726239
负责人：
Craig M Powell
金额：
$ 14.85万
依托单位：
UNIVERSITY OF ALABAMA AT BIRMINGHAM
依托单位国家：
美国
项目类别：
财政年份：
2023
资助国家：
美国
起止时间：
2023-07-01 至 2024-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10726239
关键词：
Acute Acute Promyelocytic Leukemia Adult Age Animal Genetics Animal Model Anxiety Awareness Behavior Behavior Control Behavior assessment Behavioral Behavioral Symptoms Bioinformatics Body Size Brain Brain region Breeding Cell Cycle Cell Proliferation Cells Collaborations Complementary DNA DNA Sequencing Facility Data Development Developmental Delay Disorders Disease Electrophysiology (science)Embryo FDA approved Functional disorder Future Gene Expression Genes Genetic Genetic Models Genomics Growth Heterogeneity Heterozygote Histones Human Intellectual functioning disability Knockout Mice Laboratories Learning Link Literature Loss of Heterozygosity Lysine Macrocephaly Male Sterility Male Sterilizations Malignant Neoplasms Memory Methylation Mitotic Mixed-Lineage Leukemia Modeling Molecular Mus Muscle hypotonia Mutation Neurodevelopmental Disorder Neuroglia Neurons Nuclear Outcome Measure PTEN gene Pathway interactions Patients Penetrance Pharmacotherapy Prefrontal Cortex Printing Protocols documentation Publishing Rare Diseases Reproducibility Reproduction Role Schizophrenia Seizures Slice Standardization Syndrome Testing Therapeutic Tissues Translating Western Blotting Work Zebrafish animal facility autism spectrum disorder behavior test behavioral outcome behavioral phenotyping cell type chromatin modification experience experimental study gastrointestinal histone methylation insight interest loss of function mutation mRNA Expression migration mouse model mutant mouse model neurogenesis novel rare condition repetitive behavior sex single nucleus RNA-sequencing social transcriptomics

项目摘要

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.

项目概要/摘要神经发育障碍是常见的使人衰弱的疾病，包括自闭症、智力障碍和甚至可能患有精神分裂症。最近的遗传学研究发现，多种基因中存在突变。细胞通路作为罕见神经发育障碍（包括自闭症谱系）的遗传原因障碍、智力障碍等。该提案将描述一种新型遗传小鼠模型的特征，已经由我们的实验室产生并在我们的实验室培育，以描述相对的功能研究人员正在研究大脑中的疾病基因。具体来说，该提案将针对一个与明确定义的基因有关的基因。神经发育障碍。我们建议在该小鼠模型中获得初步行为数据多个 ID 相关、ASD 相关和控制行为任务。同时，我们将获得初步单核 RNA-seq 转录组数据并进行初步分析，同时还检查特定的我们预测染色质修饰将在基因突变小鼠模型中发生改变。这些不带偏见的，初步，实验将确定哺乳动物大脑中的新下游靶标，阐明行为未来研究的结果衡量标准，并产生预计会带来未来潜力的新假设治疗策略。