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| Nomenclature |
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Symbol:
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Hbb-b1Rbc13
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Name:
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hemoglobin, beta adult major chain;
red blood cell mutant 13
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MGI ID: |
MGI:5460881 |
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Synonyms: |
RBC13 |
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Gene:
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Hbb-b1
Location:
unknown
Genetic Position: Chr7,
54.85 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6
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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: ENU induced a C to T substitution at nucleotide position 118 that is predicted to result in a nonsense mutation (Q40X) in exon 2. Q-PCR on RNA from fetal liver cells indicates that transcript expression is reduced in homozygotes and heterozygotes. (J:149205, J:190446)
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Inheritance: | |
Dominant |
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Hbb-b1 Mutation:
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3 strains or lines available |
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| References |
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Original: |
J:190446
Brown FC et al.,
"ENU mutagenesis identifies the first mouse mutants reproducing human beta-thalassemia at the genomic level."
Blood Cells Mol Dis 2013 Feb;50(2):86-92
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All: |
2 reference(s)
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Analysis Tools
