MODEL MOUSE FOR NEUROGENIC MUSCULAR ATROPHY, AND METHOD FOR SCREENING THERAPEUTIC AGENT FOR NEUROGENIC MUSCULAR ATROPHY

摘要

PROBLEM TO BE SOLVED: To provide a model mouse for neurogenic muscular atrophy capable of confirming the onset in the eighth week after the birth. SOLUTION: A mouse having a mutant Pla2g6 gene encoding a mutant PLA2G6 protein in which the 373rd glycine of a wild type PLA2G6 protein is mutated into arginine is used as the model mouse for the neurogenic muscular atrophy. In the mouse, the onset can be confirmed in the eighth week after the birth and the form of the gene abnormality is close to that of a human patient. Thereby, the mouse is useful as the model mouse for the human neurogenic muscular atrophy (e.g. infantile neuroaxonal dystrophy). COPYRIGHT: (C)2009,JPO&INPIT