MGI:2441787Mice homozygous for a knock-out allele exhibit decreased embryo size, a rudimentary egg cylinder, failure of primitive streak formation, absent primitive node and head folds, failure to gastrulate, and complete lethality prior to organogenesis. Homozygous p.P1019R mutation causes endo-lysosomal disruption, leading to accumulation of neurodegenerative markers and progressive cognitive deficits and motor impairments.