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Hbb-b1Rbc13
Chemically induced Allele Detail
Nomenclature
Symbol: Hbb-b1Rbc13
Name: hemoglobin, beta adult major chain; red blood cell mutant 13
MGI ID: MGI:5460881
Synonyms: RBC13
Gene: Hbb-b1  Location: unknown  Genetic Position: Chr7, 54.85 cM
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsENU 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)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Hbb-b1 Mutation:  4 strains or lines available
References
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
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/12/2019
MGI 6.14
The Jackson Laboratory