The targeted Sf3b1 gene encodes the splicing factor 3b protein complex subunit 1 and is involved with spliceosome assembly. Mutations in this gene have been associated with myelodysplastic syndromes and acquired idiopathic sideroblastic anemia. The most common somatic point mutation of SF3B1 found in myelodysplastic syndromes is the A-to-G transition that results in the K700E lysine to glutamic acid substitution. These Sf3b1K700E conditional knock-in mice carry an allele with a knock-in sequence of loxP sites, in opposite orientation, flanking inverted copies of exon 15 with the K700E mutation and exon 16. Cre recombinase activity results in deletion of the endogenous wildtype exon 15 and 16, and an inversion of the mutant exon 15 and 16, allowing expression of the mutant allele. Homozygotes are not viable. The unrecombined conditional allele is hypomorphic. Heterozygotes are viable and fertile. When crossed to Mx1-Cre transgenic mice (Stock No. <a href="https://www.jax.org/strain/002527"">002527</a>), the point mutation is detected by Sanger sequencing of cDNA and RNA sequencing (RNA-seq) analysis of peripheral blood, and the recombined mice, heterozygous for the mutant K700E allele, develop progressive macrocytic anemia and impaired erythroblast maturation, and exhibit increased aberrant 3' splice-site selection. Hematopoietic stem and progenitor cells (HSPCs) isolated from mice heterozygous for the mutant K700E allele exhibit increased sensitivity to the spliceosome modulator, E7107. &nbsp;

This Sf3b1K700E conditional knock-in strain is useful in studies of myelodysplastic syndromes.

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Our minimum guarantee for cryorecovery orders is 2 carriers. To ensure that your colony can be rapidly expanded upon arrival, additional carriers may be added to your order.