Faculty Research 1990 - 1999

Title

A murine model of mucopolysaccharidosis VII. Gross and microscopic findings in beta-glucuronidase-deficient mice.

Document Type

Article

Publication Date

1990

Keywords

Animals-Newborn: me, Beta-Glucosidases: df, Bone-and-Bones: en, pa, Disease-Models-Animal, Female, Joints: en, pa, Liver: en, pa, Male, Mice, Mice-Mutant-Strains, Mucopolysaccharidosis: en, pa, Myocardium: en, pa, Spleen: en, pa, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S

JAX Source

Am J Pathol 1990 Jan; 136(1):207-17.

Grant

GM34182, DK40163, DK34384

Abstract

This report describes the clinical and pathologic alterations found in mice that have a recessively inherited, essentially complete deficiency of the lysosomal enzyme beta-glucuronidase. Affected animals have a shortened life span and are dysmorphic and dwarfed. Abnormal gait and decreased joint mobility correlate with glycosaminoglycan accumulation in articular tissue and cartilaginous and bony lesions result in extensive skeletal deformation. In these enzyme-deficient animals, lysosomes, distended by fine fibrillar and granular storage material, are particularly prominent in the macrophage system but also occur in other tissues including the skeletal and central nervous systems. The clinical and pathologic abnormalities in these mutant mice closely parallel those identified in humans with mucopolysaccharidoses (MPS). Therefore, these mice provide a well-defined genetic system for the analysis of the pathophysiology of mucopolysaccharidosis type VII, which has many features in common with the other MPS. The mutant mice provide an attractive animal model to test potential therapies for lysosomal storage disease.

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