NPC2 and Niemann-Pick disease, type C1: However, in mouse and cat models, mutations in the Npc2 gene have been shown to result in symptoms similar to those observed in clinical NP-C1, including weight loss, decreased motor coordination, cerebellar Purkinje neuron death, lipid storage, and premature death (Rakib et al., 2023; Lee and Hong, 2023; Pallottini and Pfrieger, 2020).