Preliminary Functional Studies of an Understudied NDD Gene in Mice

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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.