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Allele : Sf3b1<tm1.1Gsva> splicing factor 3b, subunit 1; targeted mutation 1.1, George S Vassiliou

Primary Identifier  MGI:5829798 Allele Type  Targeted
Attribute String  Conditional ready, Humanized sequence, No functional change Gene  Sf3b1
Transmission  Germline Strain of Origin  C57BL/6N
Is Recombinase  false Is Wild Type  false
molecularNote  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).
  • mutations:
  • Insertion,
  • Single point mutation
  • synonyms:
  • Sf3b1<flox-K700E>,
  • Sf3b1<flox-K700E>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories

Trail: Allele