|  Help  |  About  |  Contact Us

Allele : Hbb<d4> hemoglobin beta chain complex; diffuse 4

Primary Identifier  MGI:1856044 Allele Type  Chemically induced (ENU)
Gene  Hbb Inheritance Mode  Not Specified
Strain of Origin  (T x 101/H)F1 Is Recombinase  false
Is Wild Type  false
description  The oxygen affinity of hemoglobin is increased in mutant mice. Because erythrocytes give up oxygen to the tissues less readily, polycythemia, with marked increases in red cell number, packed cell volume, and blood hemoglobin, results (J:13920). This murine polycythemia is homologous with hemoglobin Ranier in human (OMIM 141900, see .0232).
molecularNote  Polycythaemia is a mutation in Hbb-b1. Amino acid analysis of the mutant globin produced from this allele demostrated that a single substitution beta 145 Tyr to Cys occurred, and the authors proposed that mutagen induced an A-to-G transition in the tyrosine codon (TAC-to-TGC).
  • mutations:
  • Single point mutation
  • synonyms:
  • Hbb<c>,
  • polycythemia,
  • polycythemia,
  • Hbb<c>
Quick Links:
 
Quick Links:
 

1 Feature

Trail: Allele

Genome

0 Expresses

1 Mutation Involves

Trail: Allele

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

5 Publication categories

Trail: Allele