Cbfb^tm2.1Spe
Targeted Allele Detail

Summary

• Symbol: Cbfb^tm2.1Spe
• Name: core binding factor beta; targeted mutation 2.1, Nancy A Speck
• MGI ID: MGI:3721277
• Synonyms: Cbfb^rss
• Gene: Cbfb Location: Chr8:105897306-105944621 bp, + strand Genetic Position: Chr8, 53.04 cM
• Alliance: Cbfb^tm2.1Spe page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:124224
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted
• Mutation: Insertion
• Mutation details: This allele contains an extra copy of exon 4, interrupted by the lacZ coding sequence with a polyadenylation signal, inserted in reverse orientation immediately upstream of the endogenous exon 4. A V(D)J recombination signal sequence (RSS) with a 12-bp spacer resides upstream of the reversed exon4-lacZ, and an RSS with a 23-bp spacer lies downstream of the endogenous exon 4. The allele was generated in vivo by crossing mice heterozygous for Cbfb^tm2Spe with mice expressing cre recombinase under control of the cytomegalovirus promoter to delete a loxP-flanked neo cassette in the progeny.

  lacZ is not expressed in cells of mice with this mutation. The exogenous sequences cause aberrant splicing resulting in loss of exon 4 from a significant proportion of transcripts from this allele, so that heterozygous mutant mice express ~65% of the normal level of full-length mRNA and homozygous mutants ~30%. (J:124224)

• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

13 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Cbfb Mutation: 36 strains or lines available

References

• Original: J:124224 Talebian L, et al., T-lymphoid, megakaryocyte, and granulocyte development are sensitive to decreases in CBFbeta dosage. Blood. 2007 Jan 1;109(1):11-21
• All: 2 reference(s)