Figure 2. Summary of main preclinical findings from mouse models of 16p11.2 deletion and duplication.

Studies in 16p11.2 CNV transgenic mice have identified several core behavioral abnormalities, along with associated neurobiological disruptions. The deletion or duplication of genes within the 16p11.2 region drives transcriptional dysregulation of various downstream pathways. These transcriptional changes in turn lead to the altered developmental trajectories and synaptic changes across distributed brain regions. A range of behavioral phenotypes are reported in both 16p11.2 deletion and duplication models, likely driven by structural/functional neurological changes. Preclinical studies have identified several therapeutic approaches targeting selected disrupted systems. *KEY FIGURE