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Cbfbtm5Ppl
Targeted Allele Detail
Nomenclature
Symbol: Cbfbtm5Ppl
Name: core binding factor beta; targeted mutation 5, Pu P Liu
MGI ID: MGI:5469976
Synonyms: CbfbdeltaC95, Cbfb-MYH11deltaC95
Gene: Cbfb  Location: Chr8:105170674-105217989 bp, + strand  Genetic Position: Chr8, 53.04 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:193140
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence, Null/knockout)
Mutation:    Insertion
 
Mutation detailsExon 5 was replaced by a construct composed of the first 25 bp of mouse exon 5 fused to the 3' end of a human CBFB/MYH11 cDNA. This fusion protein is produced by a chromosome 16 inversion in patients with acute myeloid leukemia subtype M4Eo. The human cDNA fragment used contained the last 66 bp of human exon 5 and exons 33-42 of MYH11 lacking the sequence encoding amino acids the last 95 amino acids (deltaC95). A bovine growth hormone polyadenylation site and a floxed PGK-neomycin cassette were inserted immediately downstream. (J:193140)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 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
References
Original:  J:193140 Kamikubo Y, et al., The C-terminus of CBFbeta-SMMHC is required to induce embryonic hematopoietic defects and leukemogenesis. Blood. 2013 Jan 24;121(4):638-42
All:  1 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
02/11/2020
MGI 6.14
The Jackson Laboratory