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| Nomenclature |
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Symbol:
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Hbbd4
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Name:
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hemoglobin beta chain complex;
diffuse 4
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MGI ID: |
MGI:1856044 |
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Synonyms: |
Hbbc, polycythemia |
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Gene:
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Hbb
Location:
unknown
Genetic Position: Chr7,
Syntenic
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Mutation
origin |
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Strain of Origin:
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(T x 101/H)F1
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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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)
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Inheritance: | |
Not Specified |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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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).
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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
