title: Variant clinical course of mucopolysaccharidosis type VII in two groups of mice carrying the same mutation.
abstract: Mucopolysaccharidosis type VII (MPS VII) is a lysosomal storage disease caused by a deficiency in beta-glucuronidase. The disease has been well-characterized in B6.C-H-2bml/ByBir-gus(mps/mps) mice, which have proven to be an excellent model for the study of treatment modalities of storage diseases. However, because of the progressive nature of the disease, the mice deteriorate rapidly, have a greatly decreased life span, and are infertile. To increase fitness, B6.C-H-2bml/ByBir-gus(mps/+) were interbred with normal C3H mice. This study compares clinical findings, fertility, longevity, and gross and microscopic findings in the original strain with those in the F2 generation of the interbred strain.
authors.affiliation: Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia 19104, USA.
authors.forename: M L
authors.initials: ML
authors.lastname: Casal
authors.forename: J H
authors.initials: JH
authors.lastname: Wolfe
mesh_terms: D000818:Animals; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D001921:Brain / Q000473:pathology; D003433:Crosses, Genetic; D018450:Disease Progression; D005260:Female; D006580:Genetic Carrier Screening; D005838:Genotype; D005966:Glucuronidase / Q000172:deficiency / Q000235:genetics*; D006025:Glycosaminoglycans / Q000032:analysis / Q000378:metabolism; D008099:Liver / Q000473:pathology; D008297:Male; D051379:Mice; D008809:Mice, Inbred C3H; D008817:Mice, Mutant Strains; D016538:Mucopolysaccharidosis VII / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D010375:Pedigree; D011859:Radiography; D012016:Reference Values; D013154:Spleen / Q000473:pathology
chemical_list: D006025:Glycosaminoglycans; D005966:Glucuronidase