Fig. 1.

Schematic overview of the cerebellar and behavioral phenotypes in control, L7;Tsc1^fl/+, L7;Tsc1^flox/flox and L7;Tsc1^flox/flox treated with rapamycin. In control, adult Purkinje cells are organized in a tightly packed monolayer. Heterozygous loss of Tsc1 results in increased Purkinje cell spine density, defects in excitability, abnormal social and repetitive behavior, and altered communication in the pups. Complete loss of Tsc1 causes an increase in the size of Purkinje cell soma and cell death (gray cells). These morphological defects are associated with reduced Purkinje cell excitability, social deficits, impaired cognitive behavior and abnormal vocalizations. However, when L7;Tsc1^flox/flox mutants are treated with rapamycin (RAPA) starting at P7, the Purkinje cell deficits are rescued (soma size and cell number), as well as social and cognitive behavior.