| First Author | Peters J | Year | 1985 |
| Journal | Genetics | Volume | 110 |
| Issue | 4 | Pages | 709-21 |
| PubMed ID | 3839762 | Mgi Jnum | J:7972 |
| Mgi Id | MGI:56441 | Doi | 10.1093/genetics/110.4.709 |
| Citation | Peters J, et al. (1985) A mouse beta-globin mutant that is an exact model of hemoglobin Rainier in man. Genetics 110(4):709-21 |
| abstractText | 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. |
