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Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency.

E H Birkenmeier, M T Davisson, W G Beamer, R E Ganschow, C A Vogler, B Gwynn, K A Lyford, L M Maltais, and C J Wawrzyniak

Jackson Laboratory, Bar Harbor, Maine 04609.

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Jackson Laboratory, Bar Harbor, Maine 04609.

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Jackson Laboratory, Bar Harbor, Maine 04609.

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Jackson Laboratory, Bar Harbor, Maine 04609.

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Jackson Laboratory, Bar Harbor, Maine 04609.

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Jackson Laboratory, Bar Harbor, Maine 04609.

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Jackson Laboratory, Bar Harbor, Maine 04609.

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Jackson Laboratory, Bar Harbor, Maine 04609.

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Jackson Laboratory, Bar Harbor, Maine 04609.

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First published April 1, 1989 - More info

Published in Volume 83, Issue 4 (April 1, 1989)
J Clin Invest. 1989;83(4):1258–1266. doi:10.1172/JCI114010.
Copyright © 1989, The American Society for Clinical Investigation.
Published April 1, 1989

Research Article

Abstract

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.

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