Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

This manuscript provides A first description of a new spontaneous mouse mutant, called pale tremor, with a retrotransposon inserted into the gene encoding the phosphatidylinositol-3,5-bisphosphate 5-phosphatase (PtdIns(3,5)P2) Fig4. The phenotype includes early neurodegeneration, abnormal pigmentation, altered phosphoinositide levels, and the presence of large vacuoles in affected cells.