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C57BL/6JCya-Vps53em1flox/Cya
Common Name:
Vps53-flox
Product ID:
S-CKO-18744
Background:
C57BL/6JCya
Product Type
Age
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Sex
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Basic Information
Strain Name
Vps53-flox
Strain ID
CKOCMP-68299-Vps53-B6J-VB
Gene Name
Vps53
Product ID
S-CKO-18744
Gene Alias
2010002A08Rik; 2310040I21Rik; 3100002B05Rik; Hccs1
Background
C57BL/6JCya
NCBI ID
68299
Modification
Conditional knockout
Chromosome
11
Phenotype
MGI:1915549
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-Vps53em1flox/Cya mice (Catalog S-CKO-18744) 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) complex, is involved in the retrograde pathway recycling endocytic vesicles to the Golgi. It also has a role in intracellular cholesterol transport and sphingolipid homeostasis in lysosomes [2,3]. The GARP complex, with Vps53 as part of it, is important for membrane-tethering in traffic from endosomes to the trans-Golgi network [5].

In colorectal cancer, Vps53 was found to be downregulated. Overexpression of Vps53 could suppress the proliferation, migration, and invasion of colorectal cancer cells, and accelerate apoptosis and autophagy. It was shown to upregulate Beclin 1 and LC3BII, suggesting its inductive effect on autophagy, and the autophagy inhibitor could attenuate the inhibition of Vps53 on colorectal cancer progression [1]. In a family with two affected siblings presenting with complicated hereditary spastic paraparesis, a homozygous pathogenic variant in Vps53 was identified, expanding the phenotype of Vps53-related disease [2]. Mutations in Vps53 were also found to cause progressive cerebello-cerebral atrophy type 2 in families of Jewish Moroccan ancestry [3]. A case of a neonate with Vps53 pathogenic variants presented with classic phenotypic features along with liver disease and deafness, suggesting liver involvement may be an under-recognized feature of Vps53-related pontocerebellar hypoplasia type 2E [4].

In conclusion, Vps53 is crucial for endosomal-Golgi trafficking and lipid homeostasis. Its dysregulation is associated with various neurodegenerative and cancer-related diseases. Studies on Vps53, especially those using genetic models to identify its role in different disease conditions, contribute to understanding the underlying disease mechanisms and may provide potential therapeutic targets for colorectal cancer, hereditary spastic paraparesis, progressive cerebello-cerebral atrophy, and pontocerebellar hypoplasia type 2E.

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. 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/
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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