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C57BL/6JCya-Sgceem1flox/Cya
Common Name:
Sgce-flox
Product ID:
S-CKO-17828
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Sgce-flox
Strain ID
CKOCMP-20392-Sgce-B6J-VB
Gene Name
Sgce
Product ID
S-CKO-17828
Gene Alias
e-SG
Background
C57BL/6JCya
NCBI ID
20392
Modification
Conditional knockout
Chromosome
6
Phenotype
MGI:1329042
Document
Click here to download >>
Application
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More
Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Sgceem1flox/Cya mice (Catalog S-CKO-17828) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000115577
NCBI RefSeq
NM_001130188.1
Target Region
Exon 5
Size of Effective Region
~1.4 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Sgce, also known as ε-Sarcoglycan, is a type Ⅰ single-transmembrane protein. In breast cancer, it has been implicated in promoting cancer stemness. It promotes the transcription of FGF-BP1 by interacting with the Sp1 transcription factor, and the secreted FGF-BP1 activates FGF-FGFR signaling to enhance cancer cell stemness. It also functions as a sponge molecule to inhibit the lysosomal degradation of EGFR, thus stabilizing the EGFR protein and promoting breast cancer stem cell self-renewal, chemoresistance, and metastasis [2,5].

Mutations in Sgce are the most frequent known genetic cause of myoclonus-dystonia (M-D), a pleiotropic neuropsychiatric disorder. Japanese patients with M-D were found to have various loss-of-function mutations in Sgce, including nonsense, frameshift, missense, in-frame deletion, and splice donor site mutations [4]. Myoclonus-dystonia may be underdiagnosed due to pleiotropy, mild phenotypes, variable penetrance, and impaired access to genetic testing. Deleterious Sgce variants are relatively prevalent in the population, with an estimated 1/348 individuals in the US population harboring a variant with a certain CADD score [3]. Children with Sgce-myoclonus-dystonia show recognizable dystonic patterns such as writer's cramp and specific gait dystonia patterns, and use sensory tricks, which may aid in early diagnosis [1]. Some patients with Sgce-related M-D also have seizures, and altered neuronal excitability has been implicated in its pathogenesis [6].

In conclusion, Sgce has important functions in breast cancer stemness regulation and is closely associated with myoclonus-dystonia. Studies on Sgce, especially those involving loss-of-function mutations in patients, have enhanced our understanding of the biological processes underlying these disease conditions, potentially guiding the development of new diagnostic and therapeutic strategies for breast cancer and myoclonus-dystonia.

References:
1. Correa-Vela, Marta, Carvalho, Joao, Ferrero-Turrion, Julia, Macaya-Ruiz, Alfons, Pérez-Dueñas, Belén. 2022. Early recognition of SGCE-myoclonus-dystonia in children. In Developmental medicine and child neurology, 65, 207-214. doi:10.1111/dmcn.15298. https://pubmed.ncbi.nlm.nih.gov/35723607/
2. Qiu, Ting, Hou, Lei, Zhao, Lina, Jiao, Baowei, Chen, Ceshi. 2023. SGCE promotes breast cancer stemness by promoting the transcription of FGF-BP1 by Sp1. In The Journal of biological chemistry, 299, 105351. doi:10.1016/j.jbc.2023.105351. https://pubmed.ncbi.nlm.nih.gov/37838174/
3. LeDoux, Mark S. 2020. Population Prevalence of Deleterious SGCE Variants. In Tremor and other hyperkinetic movements (New York, N.Y.), 10, 50. doi:10.5334/tohm.567. https://pubmed.ncbi.nlm.nih.gov/33200041/
4. Azuma, Kenko, Horisawa, Shiro, Mashimo, Hideaki, Taira, Takaomi, Akagawa, Hiroyuki. 2022. Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia. In Clinical genetics, 103, 209-213. doi:10.1111/cge.14233. https://pubmed.ncbi.nlm.nih.gov/36161439/
5. Zhao, Lina, Qiu, Ting, Jiang, Dewei, Chen, Ceshi, Jiao, Baowei. 2020. SGCE Promotes Breast Cancer Stem Cells by Stabilizing EGFR. In Advanced science (Weinheim, Baden-Wurttemberg, Germany), 7, 1903700. doi:10.1002/advs.201903700. https://pubmed.ncbi.nlm.nih.gov/32714745/
6. Wictorin, Klas, Puschmann, Andreas. . Myoclonus-dystonia (DYT11, DYT-SGCE) - a channelopathy? In Neurologia i neurochirurgia polska, 54, 3-5. doi:10.5603/PJNNS.a2020.0013. https://pubmed.ncbi.nlm.nih.gov/32115676/
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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