BEHAVIORAL ABNORMALITIES IN A MURINE MODEL OF A HUMAN LYSOSOMAL STORAGE DISEASE

THE gus(mps)/gus(mps) mouse is a model of the human lysosomal storage discase mucopolysaccharidosis type VII due to deficient beta-glucuroni dase 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 groomi ng when stimulated with a light water mist. In the Morris water maze w hich tests spatial learning, the mutants could learn to locate an invi sible platform but were deficient in remembering its location the next day or developing strategies to locate it in new positions. Thus, the gus(mps)/gus(mps) mouse demonstrates behavioural, memory and cognitiv e deficiencies suitable for monitoring functional restorations in ther apy.