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Targeted Allele Detail
Symbol: Sf3b1tm1.1Mdf
Name: splicing factor 3b, subunit 1; targeted mutation 1.1, Mark D Fleming
MGI ID: MGI:5818977
Gene: Sf3b1  Location: Chr1:54985169-55027481 bp, - strand  Genetic Position: Chr1, 27.98 cM
Germline Transmission:  Earliest citation of germline transmission: J:234976
Parent Cell Line:  v6.5 (ES Cell)
Strain of Origin:  (C57BL/6 x 129S4/SvJae)F1
Allele Type:    Targeted (Conditional ready, Humanized sequence, Hypomorph)
Mutations:    Insertion, Single point mutation
Mutation detailsThe targeting vector contains (from 5' to 3') a mutant loxP site (upstream of exon 15), and downstream of exon 16 - a FRT-flanked neomycin/lacZ cassette, a loxP site, inverted copies of exon 15 with the K700E mutation and exon 16, a second mutant loxP site (in opposite orientation to the first mutant loxP site) and a loxP site (in opposite orientation to the first loxP site). Flp-mediated recombination removed the FRT-flanked neo cassette. The K700E (lysine to glutamic acid) substitution is associated with myelodysplastic syndromes. The unrecombined conditional allele is hypomorphic. (J:234976)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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: 1 strain available      Cell Lines: 0 lines available
Carrying any Sf3b1 Mutation:  6 strains or lines available
Original:  J:234976 Obeng EA, et al., Physiologic Expression of Sf3b1(K700E) Causes Impaired Erythropoiesis, Aberrant Splicing, and Sensitivity to Therapeutic Spliceosome Modulation. Cancer Cell. 2016 Sep 12;30(3):404-17
All:  3 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