Advertisement
Research Article Free access | 10.1172/JCI114010
Jackson Laboratory, Bar Harbor, Maine 04609.
Find articles by Birkenmeier, E. in: JCI | PubMed | Google Scholar
Jackson Laboratory, Bar Harbor, Maine 04609.
Find articles by Davisson, M. in: JCI | PubMed | Google Scholar
Jackson Laboratory, Bar Harbor, Maine 04609.
Find articles by Beamer, W. in: JCI | PubMed | Google Scholar
Jackson Laboratory, Bar Harbor, Maine 04609.
Find articles by Ganschow, R. in: JCI | PubMed | Google Scholar
Jackson Laboratory, Bar Harbor, Maine 04609.
Find articles by Vogler, C. in: JCI | PubMed | Google Scholar
Jackson Laboratory, Bar Harbor, Maine 04609.
Find articles by Gwynn, B. in: JCI | PubMed | Google Scholar
Jackson Laboratory, Bar Harbor, Maine 04609.
Find articles by Lyford, K. in: JCI | PubMed | Google Scholar
Jackson Laboratory, Bar Harbor, Maine 04609.
Find articles by Maltais, L. in: JCI | PubMed | Google Scholar
Jackson Laboratory, Bar Harbor, Maine 04609.
Find articles by Wawrzyniak, C. in: JCI | PubMed | Google Scholar
Published April 1, 1989 - More info
We have characterized a new mutant mouse that has virtually no beta-glucuronidase activity. This biochemical defect causes a murine lysosomal storage disease that has many interesting similarities to human mucopolysaccharidosis type VII (MPS VII; Sly syndrome; beta-glucuronidase deficiency). Genetic analysis showed that the mutation is inherited as an autosomal recessive that maps to the beta-glucuronidase gene complex, [Gus], on the distal end of chromosome 5. Although there is a greater than 200-fold reduction in the beta-glucuronidase mRNA concentration in mutant tissues, Southern blot analysis failed to detect any abnormalities in the structural gene, Gus-sb, or in 17 kb of 5' flanking and 4 kb of 3' flanking sequences. Surprisingly, a sensitive S1 nuclease assay indicated that the relative level of kidney gusmps mRNA responded normally to androgen induction by increasing approximately 11-fold. Analysis of this mutant mouse may offer valuable information on the pathogenesis of human MPS VII and provide a useful system in which to study bone marrow transplantation and gene transfer methods of therapy.
Images.