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C57BL/6JCya-Vps53em1/Cya
Common Name:
Vps53-KO
Product ID:
S-KO-18210
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Vps53-KO
Strain ID
KOCMP-68299-Vps53-B6J-VA
Gene Name
Vps53
Product ID
S-KO-18210
Gene Alias
2010002A08Rik; 2310040I21Rik; 3100002B05Rik; Hccs1
Background
C57BL/6JCya
NCBI ID
68299
Modification
Conventional knockout
Chromosome
11
Phenotype
MGI:1915549
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Vps53em1/Cya mice (Catalog S-KO-18210) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000056601
NCBI RefSeq
NM_026664
Target Region
Exon 8
Size of Effective Region
~1.4 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Vps53, a subunit of the Golgi-associated retrograde protein (GARP) complexes, is involved in the retrograde pathway recycling endocytic vesicles to the Golgi [6]. The GARP complex mediates retrograde trafficking from the endosome to the trans-Golgi network, which is crucial for intracellular cholesterol transport, sphingolipid homeostasis in lysosomes and some cell-morphological regulations [2,7].

Mutations in Vps53 have been associated with various human diseases. In colorectal cancer, Vps53 is downregulated. Overexpression of Vps53 can suppress the proliferation, migration, and invasion of CRC cells, and accelerate apoptosis and autophagy by upregulating Beclin 1 and LC3BII, suggesting its potential as a therapeutic target [1]. In hereditary spastic paraparesis (HSP), a homozygous pathogenic variant in Vps53 was identified in two siblings with complicated HSP, expanding the phenotype of VPS53-related disease [2]. Also, Vps53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2) in individuals of Jewish Moroccan ancestry [3]. A case of a neonate with Vps53 pathogenic variants exhibited liver disease and deafness along with classic features of pontocerebellar hypoplasia type 2E (PCH2E), indicating liver involvement might be an under-recognized feature of PCH2E [4]. In endometriosis, GZFLW was found to induce apoptosis of ectopic endometrial stromal cells via promoting Vps53 protein stability [5]. In Candida albicans, deletion of Vps53 (a GARP complex subunit) severely impaired filamentation in response to diverse cues [7].

In conclusion, Vps53 is essential for endosome-to-Golgi retrograde trafficking and maintaining lipid homeostasis. Its dysregulation is implicated in multiple human diseases such as colorectal cancer, neurodegenerative disorders like HSP and PCCA2, and potentially liver-related issues in PCH2E. Understanding Vps53 function through genetic models could provide insights into disease mechanisms and potential therapeutic strategies.

References:
1. Peng, Hong, Zheng, Jie, Su, Qiang, Wu, Hong, Pan, Xue. 2020. VPS53 Suppresses Malignant Properties in Colorectal Cancer by Inducing the Autophagy Signaling Pathway. In OncoTargets and therapy, 13, 10667-10675. doi:10.2147/OTT.S254823. https://pubmed.ncbi.nlm.nih.gov/33116643/
2. Hausman-Kedem, Moran, Ben-Shachar, Shay, Menascu, Shay, Sagie, Liora, Fattal-Valevski, Aviva. 2019. VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis. In Neurogenetics, 20, 187-195. doi:10.1007/s10048-019-00586-1. https://pubmed.ncbi.nlm.nih.gov/31418091/
3. Feinstein, Miora, Flusser, Hagit, Lerman-Sagie, Tally, Markus, Barak, Birk, Ohad S. 2014. VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). In Journal of medical genetics, 51, 303-8. doi:10.1136/jmedgenet-2013-101823. https://pubmed.ncbi.nlm.nih.gov/24577744/
4. Mouchez, Auriane, Hoebeke, Célia, Desnous, Béatrice, Fritih, Radia, Fabre, Alexandre. 2025. Hepatic manifestations in VPS53-related pontocerebellar hypoplasia type 2E: A case report. In European journal of medical genetics, 74, 104996. doi:10.1016/j.ejmg.2025.104996. https://pubmed.ncbi.nlm.nih.gov/39842660/
5. Zhang, Ziyu, Liu, Faying, Xu, YunYun, Wang, Liqun, Huang, Ouping. 2018. GZFLW Induces Apoptosis of Ectopic Endometrial Stromal Cells via Promoting VPS53 Protein Stability. In Evidence-based complementary and alternative medicine : eCAM, 2018, 1293630. doi:10.1155/2018/1293630. https://pubmed.ncbi.nlm.nih.gov/30643524/
6. Vasan, Neil, Hutagalung, Alex, Novick, Peter, Reinisch, Karin M. 2010. Structure of a C-terminal fragment of its Vps53 subunit suggests similarity of Golgi-associated retrograde protein (GARP) complex to a family of tethering complexes. In Proceedings of the National Academy of Sciences of the United States of America, 107, 14176-81. doi:10.1073/pnas.1009419107. https://pubmed.ncbi.nlm.nih.gov/20660722/
7. Hossain, Saif, Robbins, Nicole, Cowen, Leah E. . The GARP complex is required for filamentation in Candida albicans. In Genetics, 222, . doi:10.1093/genetics/iyac152. https://pubmed.ncbi.nlm.nih.gov/36226807/
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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