A MOUSE ß-GLOBIN MUTANT THAT IS AN EXACT MODEL OF HEMOGLOBIN RAINIER IN MAN

J. Peters ¹, S. J. Andrews ¹, J. F. Loutit ¹, and J. B. Clegg ²

¹ MRC Radiobiology Unit, Harwell, Didcot, Oxon OX11 ORD
² MRC Unit for Molecular Haematology, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, England

A mutation induced by ethylnitrosourea in a spermatogonial stem cell of a 101/H mouse has resulted in a structurally altered ß-diffuse major globin in one of his offspring. The mutant hemoglobin is associated with polycythemia, rubor, increased oxygen affinity and decreased hem-hem interaction. The mutant haplotype has been designated Hbb ^d4, polycythemia. Amino acid analysis of the mutant globin has shown that a single substitution ß145 Tyr Cys has occurred, and it is proposed that ethylnitrosourea induced an A G transition in the tyrosine codon (TAC TGC). This murine polycythemia is homologous with hemoglobin Rainier in man, in which the amino acid substitution is also ß145 Tyr Cys and which is associated with similar physiological consequences.

This article has been cited by other articles:

				L. van der Weyden, D. J. Adams, and A. Bradley Tools for targeted manipulation of the mouse genome Physiol Genomics, December 3, 2002; 11(3): 133 - 164. [Abstract] [Full Text] [PDF]

				M. J. Justice, JaniceK. Noveroske, JohnS. Weber, B. Zheng, and A. Bradley Mouse ENU Mutagenesis Hum. Mol. Genet., September 1, 1999; 8(10): 1955 - 1963. [Abstract] [Full Text] [PDF]