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Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene

Summary: Mouse model of Sanfilippo syndrome type B
produced by targeted disruption of the gene
encoding -N-acetylglucosaminidase
Hong Hua Li*, Wei-Hong Yu*, Nora Rozengurt, Hui-Zhi Zhao*, Karen M. Lyons*§, Stephan Anagnostaras¶, Michael S. Fanselow¶,
Kunihiko Suzuki , Marie T. Vanier**, and Elizabeth F. Neufeld*,,
*Departments of Biological Chemistry, Pathology and Laboratory Medicine, §Orthopaedic Surgery, ¶Psychology, Brain Research Institute, and Molecular
Biology Institute, University of California, Los Angeles, CA 90095; Neuroscience Center and Departments of Neurology and Psychiatry, University of North
Carolina, Chapel Hill, NC 27599; and **Institut National de la Sante´ et de la Recherche Me´dicale U189, Lyon-Sud School of Medicine, Oullins, France
Contributed by Elizabeth F. Neufeld, October 18, 1999
The Sanfilippo syndrome type B is an autosomal recessive disorder
caused by mutation in the gene (NAGLU) encoding -N-acetylglu-
cosaminidase, a lysosomal enzyme required for the stepwise de-
gradation of heparan sulfate. The most serious manifestations are
profound mental retardation, intractable behavior problems, and
death in the second decade. To generate a model for studies of
pathophysiology and of potential therapy, we disrupted exon 6 of
Naglu, the homologous mouse gene. Naglu mice were healthy
and fertile while young and could survive for 8­12 mo. They were
totally deficient in -N-acetylglucosaminidase and had massive
accumulation of heparan sulfate in liver and kidney as well as


Source: Anagnostaras, Stephan - Neurosciences Program & Department of Psychology, University of California at San Diego


Collections: Biology and Medicine