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Targeted Allele Detail
Symbol: Cbfbtm1Spe
Name: core binding factor beta; targeted mutation 1, Nancy A Speck
MGI ID: MGI:1934195
Synonyms: Cbfb-
Gene: Cbfb  Location: Chr8:105170674-105217989 bp, + strand  Genetic Position: Chr8, 53.04 cM
Germline Transmission:  Earliest citation of germline transmission: J:36593
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA neomycin resistance gene replaced the 5' end of exon 5. This mutation is predicted to result in a protein that lacks four amino acids of the heterodimerization domain. RT-PCR analysis on RNA derived from embryos demonstrated that transcripts lacking exon 5 were produced from this allele. Western blot analysis on extracts from ES cells and homozygous embryos confirmed that an aberrant protein was made that appeared to lack sequences encoded by exon 5. (J:36593)
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 27 anatomical structures
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:  27 strains or lines available
Original:  J:36593 Wang Q, et al., The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo. Cell. 1996 Nov 15;87(4):697-708
All:  7 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
MGI 6.14
The Jackson Laboratory