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Loss-of-function (LOF) mutations in  CC2D1A  cause a spectrum ofneurodevelopmental disorders, including intellectual disability, autism spectrum disorder,and seizures, identifying a critical role for this gene in cognitive and socialdevelopment. CC2D1A regulates intracellular signaling processes that are critical forneuronal function, but previous attempts to model the human LOF phenotypes have beenprevented by perinatal lethality in  Cc2d1a -deficient mice. To overcomethis challenge, we generated a floxed  Cc2d1a  allele for conditionalremoval of Cc2d1a in the brain using Cre recombinase. While removal of Cc2d1a in neuronalprogenitors using Cre expressed from the  Nestin  promoter still causesdeath at birth, conditional postnatal removal of Cc2d1a in the forebrain viacalcium/calmodulin-dependent protein kinase II-alpha ( CamKIIa )promoter-driven Cre generates animals that are viable and fertile with grossly normalanatomy. Analysis of neuronal morphology identified abnormal cortical dendriteorganization and a reduction in dendritic spine density. These animals display deficits inneuronal plasticity and in spatial learning and memory that are accompanied by reducedsociability, hyperactivity, anxiety, and excessive grooming. Cc2d1a conditional knockoutmice therefore recapitulate features of both cognitive and social impairment caused byhuman  CC2D1A  mutation, and represent a model that could provide muchneeded insights into the developmental mechanisms underlying nonsyndromicneurodevelopmental disorders.

Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits