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Cbfbtm6Ppl
Targeted Allele Detail
Summary
Symbol: Cbfbtm6Ppl
Name: core binding factor beta; targeted mutation 6, Pu P Liu
MGI ID: MGI:6407110
Synonyms: CbfbmDE
Gene: Cbfb  Location: Chr8:105897306-105944621 bp, + strand  Genetic Position: Chr8, 53.04 cM
Alliance: Cbfbtm6Ppl page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:252447
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsExon 5 was replaced by a construct composed of the first 25 bp of mouse exon 5 fused to the 3' end of the human CBFB/MYH11 cDNA (resulting from a chromosome 16 inversion common in human acute myeloid leukemia subtype M4Eo) containing mutated six charged residues in helices D and E to threonine, serine, or alanine residues: D (NANRRKL to NSNRASL) and E (QRELDEA to QAELTSA). The human cDNA fragment used contained the last 66 bp of human exon 5 and exons 33-42 of MYH11. A bovine growth hormone polyadenylation site and a neomycin cassette were inserted immediately downstream. Western blot confirmed expression of the fusion protein. (J:252447)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:252447 Zhao L, et al., The C-terminal multimerization domain is essential for leukemia development by CBFbeta-SMMHC in a mouse knockin model. Leukemia. 2017 Dec;31(12):2841-2844
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
04/16/2024
MGI 6.23
The Jackson Laboratory