C57BL/6JCya-Ccdc93em1flox/Cya
Common Name:
Ccdc93-flox
Product ID:
S-CKO-18811
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Ccdc93-flox
Strain ID
CKOCMP-70829-Ccdc93-B6J-VB
Gene Name
Product ID
S-CKO-18811
Gene Alias
4633402D15Rik; 9230102M16Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
1
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ccdc93em1flox/Cya mice (Catalog S-CKO-18811) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000036025
NCBI RefSeq
NM_001025156
Target Region
Exon 3
Size of Effective Region
~1.2 kb
Detailed Document
Overview of Gene Research
Ccdc93, or coiled-coil domain-containing 93, is a crucial component of the CCC (COMMD/CCDC22/CCDC93) complex. This complex is essential for endosomal recycling of diverse transmembrane cargos, a process vital for maintaining cellular homeostasis. It is also involved in the endosomal trafficking pathway, which has implications for various biological functions such as cell signaling and survival [1,4,5,6,7,8].
Genetic and functional studies have been carried out to understand the role of Ccdc93. In a Chinese population, a coding variant in Ccdc93 was associated with increased central systolic blood pressure (cSBP). Nuclease technology-mediated Ccdc93 loss in mice showed that homozygous deletion was lethal during embryonic development. Heterozygous Ccdc93+/- mice had lower aortic Ccdc93 protein expression, elevated SBP, impaired arterial relaxation, and mitochondrial dysfunction, indicating its role in BP regulation through effects on vascular mitochondrial and endothelial function [2]. In another study, a common variant in Ccdc93 was found to protect against myocardial infarction and cardiovascular mortality. Ccdc93 ablation in cells reduced LDL uptake due to decreased LDLR levels at the cell membrane, suggesting its role in regulating endosomal trafficking of the low-density lipoprotein receptor (LDLR) [3].
In conclusion, Ccdc93 plays essential roles in endosomal recycling and trafficking, with implications for blood pressure regulation and cardiovascular health. The gene knockout studies in mice have been instrumental in revealing its role in these biological processes and disease conditions, providing insights into potential therapeutic targets for related diseases.
References:
1. Healy, Michael D, McNally, Kerrie E, Butkovič, Rebeka, Collins, Brett M, Cullen, Peter J. . Structure of the endosomal Commander complex linked to Ritscher-Schinzel syndrome. In Cell, 186, 2219-2237.e29. doi:10.1016/j.cell.2023.04.003. https://pubmed.ncbi.nlm.nih.gov/37172566/
2. Kumar, Nitin, Yang, Min-Lee, Sun, Pengfei, Zhang, Yan, Ganesh, Santhi K. 2024. Genetic variation in CCDC93 is associated with elevated central systolic blood pressure, impaired arterial relaxation, and mitochondrial dysfunction. In PLoS genetics, 20, e1011151. doi:10.1371/journal.pgen.1011151. https://pubmed.ncbi.nlm.nih.gov/39250516/
3. Rimbert, Antoine, Dalila, Nawar, Wolters, Justina C, van de Sluis, Bart, Kuivenhoven, Jan Albert. . A common variant in CCDC93 protects against myocardial infarction and cardiovascular mortality by regulating endosomal trafficking of low-density lipoprotein receptor. In European heart journal, 41, 1040-1053. doi:10.1093/eurheartj/ehz727. https://pubmed.ncbi.nlm.nih.gov/31630160/
4. Singla, Amika, Fedoseienko, Alina, Giridharan, Sai S P, Burstein, Ezra, Billadeau, Daniel D. 2019. Endosomal PI(3)P regulation by the COMMD/CCDC22/CCDC93 (CCC) complex controls membrane protein recycling. In Nature communications, 10, 4271. doi:10.1038/s41467-019-12221-6. https://pubmed.ncbi.nlm.nih.gov/31537807/
5. Laulumaa, Saara, Kumpula, Esa-Pekka, Huiskonen, Juha T, Varjosalo, Markku. 2024. Structure and interactions of the endogenous human Commander complex. In Nature structural & molecular biology, 31, 925-938. doi:10.1038/s41594-024-01246-1. https://pubmed.ncbi.nlm.nih.gov/38459129/
6. McNally, Kerrie E, Faulkner, Rebecca, Steinberg, Florian, Burstein, Ezra, Cullen, Peter J. 2017. Retriever is a multiprotein complex for retromer-independent endosomal cargo recycling. In Nature cell biology, 19, 1214-1225. doi:10.1038/ncb3610. https://pubmed.ncbi.nlm.nih.gov/28892079/
7. Wang, Jing, Fedoseienko, Alina, Chen, Baoyu, Jia, Da, Billadeau, Daniel D. 2018. Endosomal receptor trafficking: Retromer and beyond. In Traffic (Copenhagen, Denmark), 19, 578-590. doi:10.1111/tra.12574. https://pubmed.ncbi.nlm.nih.gov/29667289/
8. Boesch, Daniel J, Singla, Amika, Han, Yan, Chen, Baoyu, Burstein, Ezra. 2023. Structural organization of the retriever-CCC endosomal recycling complex. In Nature structural & molecular biology, 31, 910-924. doi:10.1038/s41594-023-01184-4. https://pubmed.ncbi.nlm.nih.gov/38062209/
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