Open Access Mouse Model of Sanfilippo Syndrome Type B: Relation of Phenotypic Features to Background Strain

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Abstract:

Sanfilippo syndrome type B or mucopolysaccharidosis type III B (MPS IIIB) is a lysosomal storage disorder that is inherited in autosomal recessive manner. It is characterized by systemic heparan sulfate accumulation in lysosomes due to deficiency of the enzyme α-N-acetylglucosaminidase (Naglu). Devastating clinical abnormalities with severe central nervous system involvement and somatic disease lead to premature death. A mouse model of Sanfilippo syndrome type B was created by targeted disruption of the gene encoding Naglu, providing a powerful tool for understanding pathogenesis and developing novel therapeutic strategies. However, the JAX GEMM Strain B6.129S6-Naglutm1Efn mouse, although showing biochemical similarities to humans with Sanfilippo syndrome, exhibits aging and behavioral differences. We observed idiosyncrasies, such as skeletal dysmorphism, hydrocephalus, ocular abnormalities, organomegaly, growth retardation, and anomalies of the integument, in our breeding colony of Naglu mutant mice and determined that several of them were at least partially related to the background strain C57BL/6. These background strain abnormalities, therefore, potentially mimic or overlap signs of the induced syndrome in our mice. Our observations may prove useful in studies of Naglu mutant mice. The necessity for distinguishing background anomalies from signs of the modeled disease is apparent.

Document Type: Research Article

Affiliations: 1: Pathology, Division of Comparative Medicine, University of South Florida, College of Medicine, 12901 Bruce B. Downs Blvd., MDC 78, Tampa, Florida, 33612 2: Center of Excellence for Aging and Brain Repair, Department of Neurosurgery, University of South Florida, College of Medicine, 12901 Bruce B. Downs Blvd., MDC 78, Tampa, Florida, 33612 3: Division of Comparative Medicine, University of South Florida, College of Medicine, 12901 Bruce B. Downs Blvd., MDC 78, Tampa, Florida, 33612 4: All Children's Hospital, 801 6th Street South, St. Petersburg, Florida 33701

Publication date: December 1, 2003

More about this publication?
  • Comparative Medicine (CM), an international journal of comparative and experimental medicine, is the leading English-language publication in the field and is ranked by the Science Citation Index in the upper third of all scientific journals. The mission of CM is to disseminate high-quality, peer-reviewed information that expands biomedical knowledge and promotes human and animal health through the study of laboratory animal disease, animal models of disease, and basic biologic mechanisms related to disease in people and animals.

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