The molecular basis of the sparse fur mouse mutation.

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.

• Authors: G Veres, R A Gibbs, S E Scherer, C T Caskey
• Journal: Science (New York, N.Y.) (Science) Vol. 237 Issue 4813 Pg. 415-7 (Jul 24 1987) ISSN: 0036-8075 [Print] United States
• PMID: 3603027 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• RNA, Messenger
• DNA
• Ornithine Decarboxylase

Topics

• Amino Acid Sequence
• Animals
• Base Sequence
• DNA (analysis)
• Disease Models, Animal
• Genes
• Mice
• Mice, Mutant Strains
• Mutation
• Ornithine Decarboxylase (deficiency, genetics)
• RNA, Messenger (genetics)