C57BL/6JCya-Psmf1em1flox/Cya
Common Name
Psmf1-flox
Product ID
S-CKO-07189
Backgroud
C57BL/6JCya
Strain ID
CKOCMP-228769-Psmf1-B6J-VA
When using this mouse strain in a publication, please cite “Psmf1-flox Mouse (Catalog S-CKO-07189) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
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
Chr 2
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000042452
NCBI RefSeq
NM_212446
Target Region
Exon 2~3
Size of Effective Region
~1.9 kb
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
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