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C57BL/6JCya-Elocem1flox/Cya
Common Name:
Eloc-flox
Product ID:
S-CKO-18342
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Eloc-flox
Strain ID
CKOCMP-67923-Eloc-B6J-VB
Gene Name
Eloc
Product ID
S-CKO-18342
Gene Alias
2610043E24Rik; 2610301I15Rik; Tceb1
Background
C57BL/6JCya
NCBI ID
67923
Modification
Conditional knockout
Chromosome
1
Phenotype
MGI:1915173
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-Elocem1flox/Cya mice (Catalog S-CKO-18342) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000187910
NCBI RefSeq
NM_001310470.1
Target Region
Exon 2~4
Size of Effective Region
~2773 bp
Detailed Document
Click here to download >>
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 plays a crucial role in oxygen sensing and the degradation of hypoxia-inducible factors, thus being important in multiple biological processes related to oxygen regulation [1].

In a proband with von Hippel-Lindau disease (VHL) but without a detectable VHL mutation, a de novo pathogenic variant in ELOC (NM_005648.4(ELOC):c.236A>G (p.Tyr79Cys)) was identified. The p.Tyr79Cys substitution, a mutational hotspot in sporadic VHL-competent renal cell carcinoma (RCC), mimics the effects of pVHL deficiency on hypoxic signalling. Analysis of the proband's RCC showed similar findings to somatically ELOC-mutated RCC, suggesting pathogenic ELOC variants as a novel cause for VHL disease [1].

Biallelic ELOC-inactivated RCC, with ELOC mutations in combination with ELOC deletions on chromosome 8q, is considered a novel subtype of renal cancer. Biallelic ELOC and biallelic VHL aberrations were mutually exclusive, and no TSC1, TSC2, or mTOR mutations were identified in ELOC-mutated RCC with biallelic ELOC inactivation, supporting the notion of a distinct tumor entity [2]. ELOC-mutated RCC is also recognized as a novel molecularly defined epithelial renal tumour in the 2022 WHO classification of urogenital tumours [3,5,6,7,8].

In colorectal cancer, USP51 directly binds to Elongin C and forms a functional complex with VHL E3 ligase to regulate the ubiquitin-dependent proteasomal degradation of HIF1A. SUMOylation of ELOC at K32 inhibits its binding to USP51, while SENP1-mediated deSUMOylation promotes this binding, facilitating HIF1A deubiquitination and stabilization, and promoting cancer stemness and chemoresistance [4].

In conclusion, Eloc is essential for the proper function of the VCB-CR E3 ubiquitin ligase complex in oxygen sensing and hypoxia-inducible factor degradation. Its mutations are associated with the development of von Hippel-Lindau disease and a novel subtype of renal cell carcinoma. Studies on Eloc-related mutations in these disease models help to understand the molecular mechanisms of these diseases, providing potential insights for diagnosis and treatment.

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. 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/
5. 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/
6. 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/
7. 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/
8. 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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