Article
Active site mutant transgene confers tolerance to human beta-glucuronidase without affecting the phenotype of MPS VII mice.
Proceedings of the National Academy of Sciences of the United States of America - 27 Feb 2001
Sly W S, Vogler C, Grubb J H, Zhou M, Jiang J, Zhou X Y, Tomatsu S, Bi Y, Snella E M
Abstract excerpt
Mucopolysaccharidosis type VII (MPS VII; Sly syndrome) is an autosomal recessive lysosomal storage disorder due to an inherited deficiency of beta-glucuronidase. A naturally occurring mouse model for this disease was discovered at The Jackson Laboratory and shown to be due to homozygosity for a 1-bp deletion in exon 10 of the gus gene. The murine model MPS VII (gus(mps/mps)) has been very well characterized and...
Topics
- Animals
- Base Sequence
- Binding Sites
- DNA Primers
- Glucuronidase
- Immune Tolerance
- Mice
- Mice, Transgenic
- Mucopolysaccharidosis VII
- Mutation
- Phenotype