Arsg 深入了解基因-突变-疾病-模型全维度数据，尽在Rare Disease Data Center（RDDC）综合数据库

MGI:1921258 Mice homozygous for a null mutation display lysosomal storage pathology in the nervous system and peripheral tissues, including the liver and kidneys, resulting in Purkinje cell loss and age dependent cognitive impairment. Mice show a progressive degeneration of photoreceptor cells with age.