A mouse beta-globin mutant that is an exact model of hemoglobin Rainier in man.
A mutation induced by ethylnitrosourea in a spermatogonial stem cell of a 101/H mouse has resulted in a structurally altered beta-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 Hbbd4, polycythemia. Amino acid analysis of the mutant globin has shown that a single substitution beta 145 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 beta 145 Tyr----Cys and which is associated with similar physiological consequences.
D000818:Animals; D003433:Crosses, Genetic; D005038:Ethylnitrosourea / Q000494:pharmacology; D005260:Female; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D046911:Macromolecular Substances; D008297:Male; D051379:Mice; D008807:Mice, Inbred BALB C; D008815:Mice, Inbred Strains; D009154:Mutation; D011995:Recombination, Genetic; D013045:Species Specificity; D013093:Spermatogonia / Q000187:drug effects
D006455:Hemoglobins, Abnormal; D046911:Macromolecular Substances; D005914:Globins; C046444:hemoglobin Rainier; D005038:Ethylnitrosourea