MGI:99919Homozygous mutation of this gene results in lethality before weaning. Mice homozygous for a knock-in allele exhibit progressive muscle weakness, myopathy, decreased bone density, increased osteoclast genesis, and seizures. Heterozygosity for p.T262A mutation affects neural stem cells and leads to neurological defects. Heterozygosity for p.A232E mutation reduces sensitivity to diet-induced obesity.