MGI:1921772Mice homozygous for a null allele exhibit embryonic lethality around E13.5 and decreased embryo size. Mice homozygous for a null allele activated in neurons exhibit increased brain size, altered brain architecture, and behavioral changes. Heterozygosity for the p.S87L mutation is partially prenatal lethal and leads to Charcot-Marie-Tooth disease-like neuropathies.