Hbb^d4
Chemically induced Allele Detail

Summary

• Symbol: Hbb^d4
• Name: hemoglobin beta chain complex; diffuse 4
• MGI ID: MGI:1856044
• Synonyms: Hbb^c, polycythemia
• Gene: Hbb Location: unknown Genetic Position: Chr7, Syntenic

Mutation origin

• Strain of Origin: (T x 101/H)F1

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Hbb^d4 involves 1 genes/genome features (Hbb-b1) View all
• Mutation details: 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). (J:7972)
• Inheritance: Not Specified

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Hbb Mutation: 47 strains or lines available

Notes

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).

References

• Original: J:7972 Peters J, et al., A mouse beta-globin mutant that is an exact model of hemoglobin Rainier in man. Genetics. 1985 Aug;110(4):709-21
• All: 3 reference(s)