Hbb-b1^Rbc13
Chemically induced Allele Detail

Summary

• Symbol: Hbb-b1^Rbc13
• 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
• Alliance: Hbb-b1^Rbc13 page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• 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)
• Inheritance: Dominant

Disease models

Expression

In Mice Carrying this Mutation:	2 assay results
In Structures Affected by this Mutation:	3 anatomical structure(s)

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: 7 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)