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C57BL/6JCya-Med27em1/Cya
Common Name:
Med27-KO
Product ID:
S-KO-12902
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Med27-KO
Strain ID
KOCMP-68975-Med27-B6J-VA
Gene Name
Med27
Product ID
S-KO-12902
Gene Alias
1500015J03Rik; 2310042P07Rik; Crsp8; D2Ertd434e
Background
C57BL/6JCya
NCBI ID
68975
Modification
Conventional knockout
Chromosome
2
Phenotype
MGI:1916225
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-Med27em1/Cya mice (Catalog S-KO-12902) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000028139
NCBI RefSeq
NM_026896
Target Region
Exon 3
Size of Effective Region
~1.0 kb
Detailed Document
Click here to download >>
Overview of Gene Research
MED27, a subunit of the Mediator multiprotein complex, is involved in transcriptional regulation. The Mediator complex usually cooperates with transcription factors in RNA polymerase II-mediated gene transcription. MED27 is crucial for normal biological development and function, and its dysregulation may be associated with various diseases [1,2,3,4,5,6,7,8,9,10].

In neurodevelopment, biallelic MED27 variants lead to a range of phenotypes from developmental and epileptic-dyskinetic encephalopathy to variable neurodevelopmental disorder with movement abnormalities. Features include global developmental delay/intellectual disability, bilateral cataracts, infantile hypotonia, microcephaly, gait ataxia, dystonia, often combined with epilepsy, limb spasticity, facial dysmorphism, and in some cases, death before adulthood. Brain MRI shows cerebellar atrophy, white matter volume loss, pontine hypoplasia, and basal ganglia atrophy with signal alterations [1,4,8].

In cancer, MED27 promotes the progression of breast cancer, melanoma, and adrenal cortical carcinoma. In breast cancer, it targets KLF4 and Sp1; in melanoma, it affects AKT/MAPK and NF-κB/iNOS signaling pathways; in adrenal cortical carcinoma, it influences the Wnt/β-catenin signaling pathway and epithelial-mesenchymal transition process [2,3,6,7].

Generation of Med27 floxed mouse lines and subsequent constitutive (cKO) and inducible (icKO) cardiomyocyte-specific Med27 knockout mouse models revealed that ablation of MED27 in developing mouse cardiomyocytes causes embryonic lethality, while deletion in adult cardiomyocytes leads to heart failure and mortality. It is essential for maintaining the stability of the Mediator core in cardiac development and function [9].

In conclusion, MED27 is vital for transcriptional regulation. Its disruption in genetic models, especially KO/CKO mouse models, reveals its significant roles in neurodevelopmental disorders, cancer progression, and cardiac development and function. Understanding MED27 provides insights into the mechanisms of these biological processes and diseases, potentially guiding new therapeutic strategies [1,2,3,4,5,6,7,8,9,10].

References:

1. Maroofian, Reza, Kaiyrzhanov, Rauan, Cali, Elisa, Houlden, Henry, Severino, Mariasavina. . Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. In Brain : a journal of neurology, 146, 5031-5043. doi:10.1093/brain/awad257. https://pubmed.ncbi.nlm.nih.gov/37517035/

2. Wang, Ruozhu, Yu, Wendan, Zhu, Tianhua, Xu, Lingzhi, Deng, Wuguo. 2023. MED27 plays a tumor-promoting role in breast cancer progression by targeting KLF4. In Cancer science, 114, 2277-2292. doi:10.1111/cas.15757. https://pubmed.ncbi.nlm.nih.gov/36786527/

3. Wang, Y-H, Huang, J-H, Tu, J-F, Wu, M-H. . MED27 promotes malignant behavior of cells by affecting Sp1 in breast cancer. In European review for medical and pharmacological sciences, 24, 6802-6808. doi:10.26355/eurrev_202006_21669. https://pubmed.ncbi.nlm.nih.gov/32633372/

4. Meng, Linyan, Isohanni, Pirjo, Shao, Yunru, Carroll, Christopher J, Yang, Yaping. 2021. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. In Annals of neurology, 89, 828-833. doi:10.1002/ana.26019. https://pubmed.ncbi.nlm.nih.gov/33443317/

5. Reid, Kimberley M, Spaull, Robert, Salian, Smrithi, Harvey, Robert J, Kurian, Manju A. 2022. MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia. In Movement disorders : official journal of the Movement Disorder Society, 37, 2139-2146. doi:10.1002/mds.29147. https://pubmed.ncbi.nlm.nih.gov/35876425/

6. Tang, Ranran, Xu, Xiangdong, Yang, Wenjing, Li, Man, Deng, Wuguo. 2016. MED27 promotes melanoma growth by targeting AKT/MAPK and NF-κB/iNOS signaling pathways. In Cancer letters, 373, 77-87. doi:10.1016/j.canlet.2016.01.005. https://pubmed.ncbi.nlm.nih.gov/26797421/

7. He, Hongchao, Dai, Jun, Yang, Xiaoqun, Sun, Fukang, Zhu, Yu. . Silencing of MED27 inhibits adrenal cortical carcinogenesis by targeting the Wnt/β-catenin signaling pathway and the epithelial-mesenchymal transition process. In Biological chemistry, 399, 593-602. doi:10.1515/hsz-2017-0304. https://pubmed.ncbi.nlm.nih.gov/29730647/

8. Wu, Gongao, Lian, Ruofei, Li, Mengchun, Liang, Ruirui, Dong, Yan. 2024. Novel homozygous missense variants in MED27 associated with neurodevelopmental disorder: Clinical and pathogenetic research. In Heliyon, 10, e37258. doi:10.1016/j.heliyon.2024.e37258. https://pubmed.ncbi.nlm.nih.gov/39296199/

9. Zhu, Siting, Chen, Ze'e, Liu, Canzhao, Fang, Xi, Ouyang, Kunfu. 2024. The essential role of MED27 in stabilizing the mediator complex for cardiac development and function. In Life sciences, 356, 123020. doi:10.1016/j.lfs.2024.123020. https://pubmed.ncbi.nlm.nih.gov/39209248/

10. Yan, Zhaoqi, Xu, Yifeng, Li, Keke, Liu, Liangji. 2024. Genetic correlation between smoking behavior and gastroesophageal reflux disease: insights from integrative multi-omics data. In BMC genomics, 25, 642. doi:10.1186/s12864-024-10536-3. https://pubmed.ncbi.nlm.nih.gov/38937676/

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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