C57BL/6JCya-Elocem1/Cya
Common Name
Eloc-KO
Product ID
S-KO-18832
Backgroud
C57BL/6JCya
Strain ID
KOCMP-67923-Eloc-B6J-VB
Status
When using this mouse strain in a publication, please cite “Eloc-KO Mouse (Catalog S-KO-18832) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
The standard delivery applies for a guaranteed minimum of three heterozygous carriers. Breeding services for homozygous carriers and/or specified sex are available.
Basic Information
Strain Name
Eloc-KO
Strain ID
KOCMP-67923-Eloc-B6J-VB
Gene Name
Product ID
S-KO-18832
Gene Alias
Tceb1, 2610043E24Rik, 2610301I15Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
Chr 1
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000187910
NCBI RefSeq
NM_001310470
Target Region
Exon 2~4
Size of Effective Region
~3.1 kb
Overview of Gene Research
Eloc, also known as TCEB1, encodes elongin C, a key component of the VCB-CR (pVHL, elongin C, elongin B, cullin 2 and ring box 1) E3 ubiquitin ligase complex. This complex is crucial in oxygen sensing and degradation of hypoxia-inducible factors, playing a significant role in multiple biological processes related to oxygen homeostasis [1,7].
A de novo pathogenic variant in ELOC (NM_005648.4(ELOC):c.236A>G (p.Tyr79Cys)) was identified in a proband with von Hippel-Lindau (VHL) disease but without a detectable VHL mutation. This finding suggests that ELOC variants can be a novel cause for VHL disease [1]. Biallelic ELOC-inactivated renal cell carcinoma (RCC) is considered a novel subtype of renal cancer. ELOC-mutated RCC with biallelic ELOC inactivation shows distinct molecular features, such as no biallelic VHL and TSC1, TSC2, or mTOR inactivation, supporting it as a new, molecularly defined tumor entity [2]. ELOC-mutated RCC is also recognized as a novel molecularly-defined epithelial renal tumor in the 2022 WHO classification of urogenital tumours [3,4,6,8,9]. In colorectal cancer, USP51 binds to Elongin C and forms a complex with VHL E3 ligase to regulate the ubiquitin-dependent proteasomal degradation of HIF1A, promoting cancer stemness and chemoresistance [5].
In conclusion, Eloc is essential for the function of the VCB-CR E3 ubiquitin ligase complex, which is crucial for oxygen sensing. Research on Eloc-related genetic variants has revealed its potential role in diseases like VHL disease and in defining new subtypes of renal cell carcinoma. Understanding Eloc's function through model-based research can provide insights into the mechanisms of these diseases and potentially offer new therapeutic targets.
References：
1. Andreou, Avgi, Yngvadottir, Bryndis, Bassaganyas, Laia, Snape, Katie, Maher, Eamonn R. . Elongin C (ELOC/TCEB1)-associated von Hippel-Lindau disease. In Human molecular genetics, 31, 2728-2737. doi:10.1093/hmg/ddac066. https://pubmed.ncbi.nlm.nih.gov/35323939/
2. Batavia, Aashil A, Rutishauser, Dorothea, Sobottka, Bettina, Beerenwinkel, Niko, Moch, Holger. 2023. Biallelic ELOC-Inactivated Renal Cell Carcinoma: Molecular Features Supporting Classification as a Distinct Entity. In Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 36, 100194. doi:10.1016/j.modpat.2023.100194. https://pubmed.ncbi.nlm.nih.gov/37088333/
3. Moch, Holger, Amin, Mahul B, Berney, Daniel M, Cree, Ian, Netto, George J. 2022. The 2022 World Health Organization Classification of Tumours of the Urinary System and Male Genital Organs-Part A: Renal, Penile, and Testicular Tumours. In European urology, 82, 458-468. doi:10.1016/j.eururo.2022.06.016. https://pubmed.ncbi.nlm.nih.gov/35853783/
4. Rizzo, Mimma, Caliò, Anna, Brunelli, Matteo, Martignoni, Guido, Camillo, Porta. 2023. Clinico-pathological implications of the 2022 WHO Renal Cell Carcinoma classification. In Cancer treatment reviews, 116, 102558. doi:10.1016/j.ctrv.2023.102558. https://pubmed.ncbi.nlm.nih.gov/37060647/
5. Mu, Mingchao, Zhang, Qin, Li, Jing, Sun, Xuejun, Yu, Junhui. 2023. USP51 facilitates colorectal cancer stemness and chemoresistance by forming a positive feed-forward loop with HIF1A. In Cell death and differentiation, 30, 2393-2407. doi:10.1038/s41418-023-01228-8. https://pubmed.ncbi.nlm.nih.gov/37816999/
6. Alaghehbandan, Reza, Siadat, Farshid, Trpkov, Kiril. 2023. What's new in the WHO 2022 classification of kidney tumours? In Pathologica, 115, 8-22. doi:10.32074/1591-951X-818. https://pubmed.ncbi.nlm.nih.gov/36645398/
7. Sato, Yusuke, Yoshizato, Tetsuichi, Shiraishi, Yuichi, Homma, Yukio, Ogawa, Seishi. 2013. Integrated molecular analysis of clear-cell renal cell carcinoma. In Nature genetics, 45, 860-7. doi:10.1038/ng.2699. https://pubmed.ncbi.nlm.nih.gov/23797736/
8. Mohanty, Sambit K, Lobo, Anandi, Cheng, Liang. 2022. The 2022 revision of the World Health Organization classification of tumors of the urinary system and male genital organs: advances and challenges. In Human pathology, 136, 123-143. doi:10.1016/j.humpath.2022.08.006. https://pubmed.ncbi.nlm.nih.gov/36084769/
9. Goswami, Parth R, Singh, Gyanendra, Patel, Tarang, Dave, Rushang. 2024. The WHO 2022 Classification of Renal Neoplasms (5th Edition): Salient Updates. In Cureus, 16, e58470. doi:10.7759/cureus.58470. https://pubmed.ncbi.nlm.nih.gov/38765391/
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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