C57BL/6JCya-Smarce1em1flox/Cya
Common Name:
Smarce1-flox
Product ID:
S-CKO-12317
Background:
C57BL/6JCya
Product Type
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Genotype
Sex
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Basic Information
Strain Name
Smarce1-flox
Strain ID
CKOCMP-57376-Smarce1-B6J-VA
Gene Name
Product ID
S-CKO-12317
Gene Alias
2810417B20Rik; 5830412H02Rik; 9030408N19Rik; Baf27
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
11
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Smarce1em1flox/Cya mice (Catalog S-CKO-12317) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000103133
NCBI RefSeq
NM_020618
Target Region
Exon 5~7
Size of Effective Region
~3.1 kb
Detailed Document
Overview of Gene Research
Smarce1, also known as Brahma-related gene-1-associated factor 57 (BAF57), is a core subunit of the SWI/SNF chromatin remodeling complex. This complex is involved in establishing and maintaining chromatin accessibility and gene expression, playing a crucial role in various biological processes such as cell fate determination, differentiation, and proliferation [1,2,4].
In clear cell meningioma (CCM), loss of Smarce1 disrupts the stability of the canonical BAF (cBAF) complex on chromatin, reducing enhancer accessibility. The residual core module components then increase the formation of BRD9-containing non-canonical BAF (ncBAF) complexes. This change generates a CCM-specific gene expression signature, and Smarce1-deficient cells are highly sensitive to small-molecule inhibition of ncBAF complexes [1].
In neuroblastoma, high Smarce1 expression is linked to poor prognosis, especially in MYCN-amplified cases. Knockdown of Smarce1 reduces cell proliferation, colony formation, and tumorigenicity. Mechanistically, Smarce1 directly interacts with MYCN to activate downstream target genes [2].
In Coffin-Siris Syndrome, although rare, pathogenic variants in Smarce1 have been identified in some patients [3].
In in situ cancers like ductal carcinoma in situ (DCIS), Smarce1 is required for invasive progression by regulating secreted proteases that degrade the basement membrane [5].
In conclusion, Smarce1 is essential for normal cellular function through its role in the SWI/SNF chromatin remodeling complex. Model-based research, including gene knockout studies, has revealed its significance in multiple disease areas such as CCM, neuroblastoma, Coffin-Siris Syndrome, and in situ cancers. Understanding Smarce1's function provides potential therapeutic targets for these intractable diseases [1,2,3,5].
References:
1. St Pierre, Roodolph, Collings, Clayton K, Samé Guerra, Daniel D, Meredith, David M, Kadoch, Cigall. 2022. SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma. In Nature genetics, 54, 861-873. doi:10.1038/s41588-022-01077-0. https://pubmed.ncbi.nlm.nih.gov/35681054/
2. Hu, Xiaosong, Liu, Ruochen, Hou, Jianbing, Liang, Ping, Cui, Hongjuan. 2022. SMARCE1 promotes neuroblastoma tumorigenesis through assisting MYCN-mediated transcriptional activation. In Oncogene, 41, 4295-4306. doi:10.1038/s41388-022-02428-1. https://pubmed.ncbi.nlm.nih.gov/35978151/
3. Zarate, Yuri A, Bhoj, Elizabeth, Kaylor, Julie, Hakonarson, Hakon, Schrier Vergano, Samantha A. 2016. SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. In American journal of medical genetics. Part A, 170, 1967-73. doi:10.1002/ajmg.a.37722. https://pubmed.ncbi.nlm.nih.gov/27264197/
4. Zhu, Zhexin, Chen, Xiaolong, Guo, Ao, Zhang, Jinghui, Roberts, Charles W M. 2023. Mitotic bookmarking by SWI/SNF subunits. In Nature, 618, 180-187. doi:10.1038/s41586-023-06085-6. https://pubmed.ncbi.nlm.nih.gov/37225980/
5. Sokol, Ethan S, Feng, Yu-Xiong, Jin, Dexter X, Jaenisch, Rudolf, Gupta, Piyush B. 2017. SMARCE1 is required for the invasive progression of in situ cancers. In Proceedings of the National Academy of Sciences of the United States of America, 114, 4153-4158. doi:10.1073/pnas.1703931114. https://pubmed.ncbi.nlm.nih.gov/28377514/
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