The molecular basis of the sparse fur mouse mutation.

TitleThe molecular basis of the sparse fur mouse mutation.
Publication TypeJournal Article
Year of Publication1987
AuthorsVeres, G, Gibbs, RA, Scherer, SE, Caskey, CT
JournalScience
Volume237
Issue4813
Pagination415-7
Date Published1987 Jul 24
ISSN0036-8075
KeywordsAmino Acid Sequence, Animals, Base Sequence, Disease Models, Animal, DNA, Genes, Mice, Mice, Mutant Strains, Mutation, Ornithine Decarboxylase, RNA, Messenger
Abstract

The ornithine transcarbamylase-deficient sparse fur mouse is an excellent model to study the most common human urea cycle disorder. The mutation has been well characterized by both biochemical and enzymological methods, but its exact nature has not been revealed. A single base substitution in the complementary DNA for ornithine transcarbamylase from the sparse fur mouse has been identified by means of a combination of two recently described techniques for rapid mutational analysis. This strategy is simpler than conventional complementary DNA library construction, screening, and sequencing, which has often been used to find a new mutation. The ornithine transcarbamylase gene in the sparse fur mouse contains a C to A transversion that alters a histidine residue to an asparagine residue at amino acid 117.

Alternate JournalScience
PubMed ID3603027
Grant ListHD21452 / HD / NICHD NIH HHS / United States