Transgenic animal deficient in acid sphingomyelinase

摘要

Transgenic non-human mammal having a defect in acid sphingomyelinase (SM), a complete SM defect in brain cells and complete degeneration of the Purkinje cell layer in the cerebellum is obtained by replacing the wild type SM gene with a mutated SM gene to produce a phenotype corresponding to the neurovisceral form of human Niemann-Pick disease (NPD).