C57BL/6JCya-Bcl11aem1/Cya
Common Name:
Bcl11a-KO
Product ID:
S-KO-01937
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Bcl11a-KO
Strain ID
KOCMP-14025-Bcl11a-B6J-VA
Gene Name
Product ID
S-KO-01937
Gene Alias
2810047E18Rik; BCL-11A; Ctip1; D930021L15Rik; Evi9; Evi9a; Evi9b; Evi9c; mKIAA1809
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
11
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Bcl11aem1/Cya mice (Catalog S-KO-01937) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000109514
NCBI RefSeq
NM_001242934
Target Region
Exon 4
Size of Effective Region
~2.5 kb
Detailed Document
Overview of Gene Research
BCL11A, also known as B-cell lymphoma/leukemia 11A, encodes a zinc-finger protein predominantly expressed in the brain and hematopoietic tissue. It functions mainly as a transcriptional repressor crucial in brain and hematopoietic system development, especially in the fetal-to-adult hemoglobin switching process. Genetic variations regulate its expression, and it is involved in multiple pathways related to hemoglobin regulation [4].
BCL11A is a key regulator in the fetal to adult hemoglobin switch. Genome-wide association studies (GWAS) identified its role in HbF regulation. In erythroid cells, its down-regulation can rescue the phenotype of engineered sickle cell disease (SCD) mice, suggesting its potential as a therapeutic target for SCD and β-thalassemia. Editing of the BCL11A enhancer in human progenitors and mouse transgenesis validates it as a target for HbF re-induction. Clinical trials using gene editing or post-transcriptional genetic silencing targeting BCL11A show promising results in treating SCD [1,2,3,5].
In conclusion, BCL11A is essential for the fetal-to-adult hemoglobin switch. Studies using mouse models and human cell-based experiments have revealed its role in hemoglobin-related diseases like SCD and β-thalassemia. These findings highlight its potential as a therapeutic target, offering new strategies for treating these severe monogenic diseases.
References:
1. Zheng, Ge, Orkin, Stuart H. . Transcriptional Repressor BCL11A in Erythroid Cells. In Advances in experimental medicine and biology, 1459, 199-215. doi:10.1007/978-3-031-62731-6_9. https://pubmed.ncbi.nlm.nih.gov/39017845/
2. Canver, Matthew C, Smith, Elenoe C, Sher, Falak, Orkin, Stuart H, Bauer, Daniel E. 2015. BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis. In Nature, 527, 192-7. doi:10.1038/nature15521. https://pubmed.ncbi.nlm.nih.gov/26375006/
3. Esrick, Erica B, Lehmann, Leslie E, Biffi, Alessandra, Manis, John P, Williams, David A. 2020. Post-Transcriptional Genetic Silencing of BCL11A to Treat Sickle Cell Disease. In The New England journal of medicine, 384, 205-215. doi:10.1056/NEJMoa2029392. https://pubmed.ncbi.nlm.nih.gov/33283990/
4. Yin, Jiawei, Xie, Xiaoli, Ye, Yufu, Wang, Lijuan, Che, Fengyuan. . BCL11A: a potential diagnostic biomarker and therapeutic target in human diseases. In Bioscience reports, 39, . doi:10.1042/BSR20190604. https://pubmed.ncbi.nlm.nih.gov/31654056/
5. Frangoul, Haydar, Altshuler, David, Cappellini, M Domenica, Yen, Angela, Corbacioglu, Selim. 2020. CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia. In The New England journal of medicine, 384, 252-260. doi:10.1056/NEJMoa2031054. https://pubmed.ncbi.nlm.nih.gov/33283989/
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