Behavioral abnormalities associated with CNVs have been confirmed in animal models (Horev et al., 2011; Nakatani et al., 2009; Peca et al., 2011; Tabuchi et al., 2007; Tamada et al., 2010). Mice with a paternal duplication of 15q11-13 display poor social interaction, behavioral inflexibility, abnormal ultrasonic vocalizations, and correlates of anxiety (Nakatani et al., 2009). Mice with reciprocal deletions and duplication of 16p11.2 have contrasting effects on mobility, grooming and repetitive behaviors (Horev et al., 2011). Mice lacking neurexin-1α display a decrease in pre-pulse inhibition, an increase in grooming behaviors, impairment in nest-building activity, and an improvement in motor learning (Etherton et al., 2009). Mice lacking Contactin-associated protein 2 (Cntnap2) display deficits in social interaction and communication, hyperactivity, and seizures (Penagarikano et al., 2011). These observations confirm some effects of CNV genotype on behavior; however determining the genes responsible for specific behavioral phenotypes in mouse and relating this to human phenotypes will be a challenge.
