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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.

项目摘要/摘要神经发育障碍是一种常见的、使人衰弱的疾病，包括自闭症、智力残疾和甚至可能是精神分裂症。最近的遗传学研究发现，在不同的基因中存在多个基因突变细胞通路是包括自闭症谱系在内的罕见神经发育障碍的遗传原因精神障碍、智力残疾和其他。这项提议将描述一种新的遗传小鼠模型，已经由我们实验室产生并在我们实验室繁殖，来描绘一个相对的功能大脑中未被充分研究的疾病基因。具体地说，该提案将针对一种涉及明确定义的神经发育障碍。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曲核rna-seq转录数据并执行初步分析，同时还检查特定的我们预测的染色质修饰会在遗传突变小鼠模型中发生改变。这些不偏不倚，初步，实验将在哺乳动物大脑中识别新的下游靶点，阐明行为未来研究的结果衡量标准，并产生预期导致未来潜力的新假设治疗策略。