Sf3b1^tm1.1Gsva
Targeted Allele Detail

Summary

• Symbol: Sf3b1^tm1.1Gsva
• Name: splicing factor 3b, subunit 1; targeted mutation 1.1, George S Vassiliou
• MGI ID: MGI:5829798
• Synonyms: Sf3b1^flox-K700E
• Gene: Sf3b1 Location: Chr1:55024328-55066640 bp, - strand Genetic Position: Chr1, 27.98 cM
• Alliance: Sf3b1^tm1.1Gsva page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:239625
• Parent Cell Line: JM8 (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence, No functional change)
• Mutations: Insertion, Single point mutation
• Mutation details: Using gateway and recombineering recombination technologies, exon 15 was replaced with a copy with an A>G nucleotide substitution changing Lys700 codon AAA to glutamic acid codon GAA. At the same time a loxP site flanked cDNA splice-trap cassette and an FRT site flanked neomycin resistance gene cassette were inserted into intron 11. The cDNA splice-trap cassette comprised the following: an engrailed 2 intron with strong splice acceptor, a partial cDNA for the gene coding for exon 12 onwards (and including introns 15 and 19 to prevent bacterial toxicity), followed by an SV40 pA signal. The neo cassette was removed through subsequent flp-mediated recombination, leaving a conditional-ready K700E mutation allele. The K700E mutation is the most common mutation associated with MDS (age-related clonal hematopoiesis and myelodysplastic syndromes). (J:239625)

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 Sf3b1 Mutation: 73 strains or lines available

References

• Original: J:239625 Mupo A, et al., Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts. Leukemia. 2017 Mar;31(3):720-727
• All: 1 reference(s)