A single-base-pair deletion in the beta-glucuronidase gene accounts for the phenotype of murine mucopolysaccharidosis type VII.

doi:10.1073/pnas.90.14.6567

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Article

A single-base-pair deletion in the beta-glucuronidase gene accounts for the phenotype of murine mucopolysaccharidosis type VII.

Proceedings of the National Academy of Sciences of the United States of America - 15 Jul 1993

Sands M S, Birkenmeier E H

Abstract excerpt

Murine mucopolysaccharidosis type VII is a heritable disease caused by a spontaneous mutation, gus(mps), closely linked to the beta-glucuronidase structural gene on chromosome 5. Mice homozygous for the mutation have a > 200-fold decrease in beta-glucuronidase mRNA levels and virtually no enzyme activity detectable by a sensitive fluorometric assay. Approximately 20 kb of genomic DNA containing the...

Topics

Alleles
Amino Acid Sequence
Animals
Base Sequence
Cloning, Molecular
Exons
Frameshift Mutation
Genome
Glucuronidase
Mice
Mice, Mutant Strains

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mucopolysaccharidosis VII

Mutagenesis, Site-Directed

Phenotype

Polymorphism, Restriction Fragment Length

Restriction Mapping

Rodent Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 8101990
DOI: 10.1073/pnas.90.14.6567
PMCID: PMC46973

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8101990-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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A single-base-pair deletion in the beta-glucuronidase gene accounts for the phenotype of murine mucopolysaccharidosis type VII.PMID 8101990Read ↗

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