C57BL/6JCya-Sgceem1/Cya
Common Name:
Sgce-KO
Product ID:
S-KO-17906
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Sgce-KO
Strain ID
KOCMP-20392-Sgce-B6J-VB
Gene Name
Product ID
S-KO-17906
Gene Alias
e-SG
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
6
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Sgceem1/Cya mice (Catalog S-KO-17906) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000115577
NCBI RefSeq
NM_001130188
Target Region
Exon 5
Size of Effective Region
~1.4 kb
Detailed Document
Overview of Gene Research
Sgce, also known as ε-Sarcoglycan, is a type Ⅰ single-transmembrane protein. It has been implicated in multiple biological processes. In breast cancer, it is involved in promoting cancer stemness. It interacts with the specific protein 1 transcription factor to increase the transcription of FGF-BP1, activating FGF-FGFR signaling [3]. It also stabilizes EGFR by acting as a sponge molecule for the interaction between EGFR and its E3 ubiquitination ligase, thus promoting breast cancer stem cells [6].
Mutations in Sgce are the most frequent known genetic cause of Myoclonus-Dystonia (M-D), a pleiotropic neuropsychiatric disorder. Patients with SGCE-myoclonus-dystonia often show upper body myoclonus and mild dystonia affecting the neck and arms. Some have gait impairments, like 'circular shaking leg', 'dragging leg', and 'hobby-horse gait' patterns [1,2,7]. SGCE-myoclonus-dystonia may be underdiagnosed due to pleiotropy, mild phenotypes, variable penetrance, and limited access to genetic testing [4]. Loss-of-function mutations in SGCE have been found in Japanese patients with myoclonus-dystonia, with some mutations affecting a brain-specific isoform mostly expressed in the cerebellum, suggesting cerebellar dysfunction as a key element in the pathophysiology [5].
In conclusion, Sgce plays a role in promoting breast cancer stemness through multiple mechanisms. In addition, its mutations are closely associated with Myoclonus-Dystonia, where it shows a variety of motor-related phenotypes. The study of Sgce, especially through understanding its loss-of-function effects, helps in uncovering the pathophysiology of related diseases, providing potential diagnostic and therapeutic targets.
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. Varga, M Georgeta, Nand, Nikita P, LeDoux, Mark S. 2020. Delayed Diagnoses of SGCE Myoclonus-Dystonia. In Tremor and other hyperkinetic movements (New York, N.Y.), 10, 23. doi:10.5334/tohm.334. https://pubmed.ncbi.nlm.nih.gov/32775037/
3. 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/
4. 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/
5. 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/
6. 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/
7. Haeri, Ghazal, Shahidi, Gholamali, Fasano, Alfonso, Rohani, Mohammad. 2019. Gait Impairment in Myoclonus-Dystonia (DYT-SGCE). In Tremor and other hyperkinetic movements (New York, N.Y.), 9, . doi:10.7916/tohm.v0.656. https://pubmed.ncbi.nlm.nih.gov/31413899/
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