C57BL/6JCya-Vps4aem1/Cya
Common Name:
Vps4a-KO
Product ID:
S-KO-20853
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Vps4a-KO
Strain ID
KOCMP-116733-Vps4a-B6J-VA
Gene Name
Product ID
S-KO-20853
Gene Alias
4930589C15Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
8
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Vps4aem1/Cya mice (Catalog S-KO-20853) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000034388
NCBI RefSeq
NM_126165
Target Region
Exon 4~5
Size of Effective Region
~1.4 kb
Detailed Document
Overview of Gene Research
Vps4a, vacuolar-protein-sorting-associated protein 4A, is a member of the large family of AAA+ ATPases. It is a crucial component of the endosomal sorting complex required for transport (ESCRT) system, driving membrane remodeling in multiple cellular processes such as receptor degradation, cell division, and neural pruning [4]. It also has functions in regulating autophagy, lipophagy, and is involved in exosome-related processes [1,2,5].
In cardiomyocyte-specific Vps4a knockout mice, there was autophagosome accumulation, blocked autophagic flux, resulting in hypertrophic cardiomyopathy and early lethality, indicating Vps4a's role in autophagic flux regulation in cardiomyocytes [3]. In human studies, de novo missense variants in Vps4A caused multisystem disease with abnormal neurodevelopment, affecting various cellular processes like endosomal morphology, centrosome number regulation, and cell cycle progression [6]. Also, mutations in Vps4A led to syndromic congenital dyserythropoietic anemia due to cytokinesis and trafficking defects [7].
In conclusion, Vps4a is essential for membrane remodeling, autophagy, lipophagy, and exosome-related functions. The use of Vps4a knockout mouse models has revealed its significance in heart diseases such as hypertrophic cardiomyopathy, as well as in human disorders including abnormal neurodevelopment and congenital dyserythropoietic anemia. These studies help in understanding the underlying mechanisms of these diseases and may contribute to the development of new therapeutic strategies.
References:
1. Guo, Weina, Zhou, Haifeng, Wang, Jingbo, Luo, Shanshan, Hu, Desheng. 2024. Aloperine Suppresses Cancer Progression by Interacting with VPS4A to Inhibit Autophagosome-lysosome Fusion in NSCLC. In Advanced science (Weinheim, Baden-Wurttemberg, Germany), 11, e2308307. doi:10.1002/advs.202308307. https://pubmed.ncbi.nlm.nih.gov/39166458/
2. Das, Debajyoti, Sharma, Mridul, Gahlot, Deepanshi, Martinez-Lopez, Nuria, Singh, Rajat. 2024. VPS4A is the selective receptor for lipophagy in mice and humans. In Molecular cell, 84, 4436-4453.e8. doi:10.1016/j.molcel.2024.10.022. https://pubmed.ncbi.nlm.nih.gov/39520981/
3. Huang, Xiaozhi, Zhang, Jiayin, Wang, Wenyi, Huang, Zhishan, Han, Peidong. 2023. Vps4a Regulates Autophagic Flux to Prevent Hypertrophic Cardiomyopathy. In International journal of molecular sciences, 24, . doi:10.3390/ijms241310800. https://pubmed.ncbi.nlm.nih.gov/37445978/
4. Dvilansky, Inbar, Altaras, Yarin, Kamenetsky, Nikita, Nachmias, Dikla, Elia, Natalie. 2024. The human AAA-ATPase VPS4A isoform and its co-factor VTA1 have a unique function in regulating mammalian cytokinesis abscission. In PLoS biology, 22, e3002327. doi:10.1371/journal.pbio.3002327. https://pubmed.ncbi.nlm.nih.gov/38687820/
5. Han, Qingfang, Lv, Lihong, Wei, Jinxing, Liu, Peiqing, Min, Jun. 2019. Vps4A mediates the localization and exosome release of β-catenin to inhibit epithelial-mesenchymal transition in hepatocellular carcinoma. In Cancer letters, 457, 47-59. doi:10.1016/j.canlet.2019.04.035. https://pubmed.ncbi.nlm.nih.gov/31059752/
6. Rodger, Catherine, Flex, Elisabetta, Allison, Rachel J, Tartaglia, Marco, Reid, Evan. 2020. De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment. In American journal of human genetics, 107, 1129-1148. doi:10.1016/j.ajhg.2020.10.012. https://pubmed.ncbi.nlm.nih.gov/33186545/
7. Seu, Katie G, Trump, Lisa R, Emberesh, Sana, Lutzko, Carolyn M, Kalfa, Theodosia A. 2020. VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects. In American journal of human genetics, 107, 1149-1156. doi:10.1016/j.ajhg.2020.10.013. https://pubmed.ncbi.nlm.nih.gov/33186543/
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