C57BL/6JCya-Psmf1em1/Cya
Common Name:
Psmf1-KO
Product ID:
S-KO-17777
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Psmf1-KO
Strain ID
KOCMP-228769-Psmf1-B6J-VB
Gene Name
Product ID
S-KO-17777
Gene Alias
PI31
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
2
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Psmf1em1/Cya mice (Catalog S-KO-17777) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000042452
NCBI RefSeq
NM_212446.2
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, which is a highly conserved and ubiquitously expressed partner of the 20S proteasome, and is involved in pathways related to protein turnover and quality control. It has been implicated in various biological processes and diseases, with its regulation of proteasomal activity being of particular importance [2,3].
In Psmf1 conditional knockout mouse models, there is an age-dependent motor impairment and diffuse gliosis, indicating its role in motor function and neural health. In humans, biallelic Psmf1 missense and loss-of-function variants are associated with a phenotypic spectrum from early-onset Parkinson's disease and parkinsonism to perinatal lethality, and these variants can impair mitochondrial membrane potential, dynamics and mitophagy in patient-derived fibroblasts [1].
In conclusion, Psmf1 is crucial for regulating proteasomal activity and has a significant impact on mitochondrial function. Its study through gene knockout models, especially Psmf1 conditional knockout mouse models, has revealed its importance in neurodegenerative diseases like early-onset Parkinson's disease, highlighting its potential as a therapeutic target for such conditions.
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