Sf3b1^tm1.1Mdf
Targeted Allele Detail

Summary

• Symbol: Sf3b1^tm1.1Mdf
• Name: splicing factor 3b, subunit 1; targeted mutation 1.1, Mark D Fleming
• MGI ID: MGI:5818977
• Synonyms: Sf3b1^K700E
• Gene: Sf3b1 Location: Chr1:55024328-55066640 bp, - strand Genetic Position: Chr1, 27.98 cM
• Alliance: Sf3b1^tm1.1Mdf page

Mutation origin

• 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

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence, Hypomorph)
• Mutations: Insertion, Single point mutation
• Mutation details: A mutant loxP site was inserted into intron 14, and an FRT site flanked neomycin resistance gene/lacZ cassette, a loxP site, and, in reverse orientation, a copy of exon 16, a modified copy of exon 15, a second mutant loxP site and a second loxP site were inserted into intron 16. Flp-mediated recombination removed the neo cassette. The modification in exon 15 entails changing lysine codon 700 (AAA) to glutamic acid (GAA) (p.K700E). This is the equivalent of the same human mutation associated with myelodysplastic syndromes. This allele expresses the wild-type protein and only after Cre-mediated inversion of the inserted exon copies and deletion of the equivalent endogenous exons will it express the mutant protein. Nevertheless, this allele is hypomorphic. (J:234976)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Sf3b1 Mutation: 76 strains or lines available

References

• 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: 12 reference(s)