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Chemically induced Allele Detail
Symbol: Hbbd4
Name: hemoglobin beta chain complex; diffuse 4
MGI ID: MGI:1856044
Synonyms: Hbbc, polycythemia
Gene: Hbb  Location: unknown  Genetic Position: Chr7, Syntenic
Strain of Origin:  (T x 101/H)F1
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsPolycythaemia 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
View phenotypes for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Hbb Mutation:  25 strains or lines available
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).
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)

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MGI 6.04
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