C57BL/6JCya-Psmf1em1flox/Cya
Common Name:
Psmf1-flox
Product ID:
S-CKO-07189
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Psmf1-flox
Strain ID
CKOCMP-228769-Psmf1-B6J-VA
Gene Name
Product ID
S-CKO-07189
Gene Alias
PI31
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
2
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Psmf1em1flox/Cya mice (Catalog S-CKO-07189) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000042452
NCBI RefSeq
NM_212446
Target Region
Exon 2~3
Size of Effective Region
~1.9 kb
Detailed Document
Overview of Gene Research
Psmf1, also known as PI31, encodes the proteasome regulator PSMF1/PI31, a highly conserved and ubiquitously expressed partner of the 20S proteasome and neurodegeneration-associated F-box-O 7 and valosin-containing proteins. It is involved in regulating proteasome activity, and is associated with pathways related to protein turnover and quality control, which are crucial for cell homeostasis [2,3]. Dysfunction of Psmf1 may be related to various diseases including neurodegeneration, cardiomyopathy, and cancer [2]. Genetic models such as Drosophila with psmf1 knockdown and Psmf1 conditional knockout (CKO) mouse models are valuable for studying its function [1].
In Psmf1 CKO mouse models, age-dependent motor impairment was observed, along with diffuse gliosis. In addition, studies on patient-derived fibroblasts with Psmf1 variants showed impairment of mitochondrial membrane potential, dynamics, and mitophagy. These findings from model-based research link defective Psmf1 to early-onset Parkinson's disease (PD) and neurodegeneration, suggesting mitochondrial dysfunction as a contributing mechanism [1].
In conclusion, Psmf1 plays a vital role in regulating proteasome activity and is involved in maintaining cell homeostasis. The Psmf1 CKO mouse model has been instrumental in revealing its role in early-onset PD and neurodegeneration, highlighting the significance of Psmf1 in these disease areas.
References:
1. Magrinelli, Francesca, Tesson, Christelle, Angelova, Plamena R, Bhatia, Kailash P, Houlden, Henry. 2024. PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. In medRxiv : the preprint server for health sciences, , . doi:10.1101/2024.06.19.24308302. https://pubmed.ncbi.nlm.nih.gov/39148840/
2. Clemen, Christoph S, Marko, Marija, Strucksberg, Karl-Heinz, Hofmann, Andreas, Schröder, Rolf. 2015. VCP and PSMF1: Antagonistic regulators of proteasome activity. In Biochemical and biophysical research communications, 463, 1210-7. doi:10.1016/j.bbrc.2015.06.086. https://pubmed.ncbi.nlm.nih.gov/26086101/
3. Li, Xiaohua, Thompson, David, Kumar, Brajesh, DeMartino, George N. 2014. Molecular and cellular roles of PI31 (PSMF1) protein in regulation of proteasome function. In The Journal of biological chemistry, 289, 17392-405. doi:10.1074/jbc.M114.561183. https://pubmed.ncbi.nlm.nih.gov/24770418/
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