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: The 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)

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: 74 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: 10 reference(s)