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Science 24 July 1987:
Vol. 237. no. 4813, pp. 415 - 417
DOI: 10.1126/science.3603027
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Articles

Science, Vol 237, Issue 4813, 415-417
Copyright © 1987 by American Association for the Advancement of Science

articles

The molecular basis of the sparse fur mouse mutation

G Veres, RA Gibbs, SE Scherer, and CT Caskey

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.


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