C57BL/6JCya-Sf3b1em1flox/Cya
Common Name
Sf3b1-flox
Product ID
S-CKO-18214
Backgroud
C57BL/6JCya
Strain ID
CKOCMP-81898-Sf3b1-B6J-VB
When using this mouse strain in a publication, please cite “Sf3b1-flox Mouse (Catalog S-CKO-18214) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Basic Information
Strain Name
Sf3b1-flox
Strain ID
CKOCMP-81898-Sf3b1-B6J-VB
Gene Name
Product ID
S-CKO-18214
Gene Alias
155kDa, 2810001M05Rik, Prp10, SAP155, SF3b155, TA-8, Targ4
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
Chr 1
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000027127
NCBI RefSeq
NM_031179
Target Region
Exon 7
Size of Effective Region
~1.2 kb
Overview of Gene Research
SF3B1, encoding the largest subunit of the splicing factor 3b protein complex, is crucial for spliceosome assembly and mRNA splicing [1]. It plays a significant role in regulating gene expression by ensuring proper pre-mRNA splicing, an essential process for normal cellular function and development.
Mutations in SF3B1 are frequently associated with hematological malignancies, especially myelodysplastic syndromes (MDS) [1,2,3,5,8]. In MDS, SF3B1 mutations are strongly linked to the presence of ring sideroblasts in the bone marrow [2]. SF3B1-mutant MDS is proposed as a distinct nosologic entity with a relatively good prognosis, and patients may respond to luspatercept, eliminating the transfusion requirement [3]. Additionally, SF3B1-mutant cells are selectively sensitive to poly (ADP-ribose) polymerase inhibitors (PARPi) due to a defective replication stress response [4]. In MDS-RS, mis-splicing of coenzyme A synthase (COASY) induced by SF3B1 mutations affects heme biosynthesis and erythropoiesis, and supplementation with vitamin B5 can rescue these defects [6]. In ovarian cancer, inhibition of SF3B1 can improve the immune microenvironment through pyroptosis and synergize with αPDL1 [7].
In summary, SF3B1 is vital for mRNA splicing. Its mutations are closely related to hematological malignancies like MDS. Research on SF3B1-mutant models has revealed potential therapeutic vulnerabilities and new treatment strategies for these diseases, highlighting the importance of SF3B1 in understanding disease mechanisms and developing targeted therapies.
References：
1. Cilloni, Daniela, Itri, Federico, Bonuomo, Valentina, Petiti, Jessica. 2022. SF3B1 Mutations in Hematological Malignancies. In Cancers, 14, . doi:10.3390/cancers14194927. https://pubmed.ncbi.nlm.nih.gov/36230848/
2. Pellagatti, Andrea, Boultwood, Jacqueline. 2020. SF3B1 mutant myelodysplastic syndrome: Recent advances. In Advances in biological regulation, 79, 100776. doi:10.1016/j.jbior.2020.100776. https://pubmed.ncbi.nlm.nih.gov/33358369/
3. Malcovati, Luca, Stevenson, Kristen, Papaemmanuil, Elli, Hellstrom-Lindberg, Eva, Cazzola, Mario. . SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS. In Blood, 136, 157-170. doi:10.1182/blood.2020004850. https://pubmed.ncbi.nlm.nih.gov/32347921/
4. Bland, Philip, Saville, Harry, Wai, Patty T, Lord, Christopher J, Natrajan, Rachael. 2023. SF3B1 hotspot mutations confer sensitivity to PARP inhibition by eliciting a defective replication stress response. In Nature genetics, 55, 1311-1323. doi:10.1038/s41588-023-01460-5. https://pubmed.ncbi.nlm.nih.gov/37524790/
5. Gajzer, David C, Yeung, Cecilia C S. 2023. Significance of SF3B1 Mutations in Myeloid Neoplasms. In Clinics in laboratory medicine, 43, 597-606. doi:10.1016/j.cll.2023.07.005. https://pubmed.ncbi.nlm.nih.gov/37865505/
6. Mian, Syed A, Philippe, Céline, Maniati, Eleni, Gribben, John G, Rouault-Pierre, Kevin. 2023. Vitamin B5 and succinyl-CoA improve ineffective erythropoiesis in SF3B1-mutated myelodysplasia. In Science translational medicine, 15, eabn5135. doi:10.1126/scitranslmed.abn5135. https://pubmed.ncbi.nlm.nih.gov/36857430/
7. Wang, Shourong, Liu, Yao, Xiao, Huimin, Sun, Chaoyang, Song, Kun. 2023. Inhibition of SF3B1 improves the immune microenvironment through pyroptosis and synergizes with αPDL1 in ovarian cancer. In Cell death & disease, 14, 775. doi:10.1038/s41419-023-06301-1. https://pubmed.ncbi.nlm.nih.gov/38012150/
8. Jiang, Moqin, Chen, Meng, Liu, Qian, Yang, Xiangdong, Zhang, Weifeng. 2023. SF3B1 mutations in myelodysplastic syndromes: A potential therapeutic target for modulating the entire disease process. In Frontiers in oncology, 13, 1116438. doi:10.3389/fonc.2023.1116438. https://pubmed.ncbi.nlm.nih.gov/37007111/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen
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