Behavioural abnormalities in a murine model of a human lysosomal storage disease.
Behavioural abnormalities in a murine model of a human lysosomal storage disease.
复制标题
人类溶酶体贮积症小鼠模型的行为异常。
作者：
P. Chang;D. Lambert;M. A. Pisa
gusmps/gusmps小鼠是由于缺乏β -葡萄糖醛酸酶活性而导致的人溶酶体储存病粘多糖病VII型的模型。我们现在报告与这种单基因缺陷相关的行为异常。在梳理毛发（一种受发育调控和基于基因的活动）方面，当受到轻水雾刺激时，突变小鼠花在梳理身体上的时间为正常时间的1-5%，花在梳理面部上的时间约为正常时间的60%。在莫里斯水迷宫中测试空间学习能力，突变体可以学会定位一个看不见的平台，但在第二天记住它的位置或制定将其定位到新位置的策略方面存在缺陷。因此，gusmps/gusmps小鼠表现出行为、记忆和认知缺陷，适合监测治疗中的功能恢复。
The gusmps/gusmps mouse is a model of the human lysosomal storage disease mucopolysaccharidosis type VII due to deficient beta-glucuronidase activity. We now report behavioural abnormalities associated with this single gene defect. In grooming, a developmentally regulated and genetically based activity, the mutant mice spent 1-5% of the normal time for body grooming and about 60% of the normal time in face grooming when stimulated with a light water mist. In the Morris water maze which tests spatial learning, the mutants could learn to locate an invisible platform but were deficient in remembering its location the next day or developing strategies to locate it in new positions. Thus, the gusmps/gusmps mouse demonstrates behavioural, memory and cognitive deficiencies suitable for monitoring functional restorations in therapy.