C57BL/6JCya-Wfs1em1/Cya
Common Name
Wfs1-KO
Product ID
S-KO-05762
Backgroud
C57BL/6JCya
Strain ID
KOCMP-22393-Wfs1-B6J-VA
Status
When using this mouse strain in a publication, please cite “Wfs1-KO Mouse (Catalog S-KO-05762) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
The standard delivery applies for a guaranteed minimum of three heterozygous carriers. Breeding services for homozygous carriers and/or specified sex are available.
Basic Information
Strain Name
Wfs1-KO
Strain ID
KOCMP-22393-Wfs1-B6J-VA
Gene Name
Product ID
S-KO-05762
Gene Alias
wolframin
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
Chr 5
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000043964
NCBI RefSeq
NM_011716
Target Region
Exon 3
Size of Effective Region
~1.2 kb
Overview of Gene Research
Wfs1, encoding a transmembrane structural protein wolframin, is crucial for several biological processes such as proper inner ear function [2]. It is a mitochondria-associated endoplasmic reticulum (ER) membrane (MAM) resident protein, playing a role in maintaining MAM integrity and functionality [3]. Wolfram syndrome 1 (WFS1), a monogenic disease, is caused by the loss of the Wfs1 gene [1].
Studies on Wfs1-related mouse models, like the Wfs1E864K mouse, have shown that mutant Wfs1 can lead to decreases in mitochondria bioenergetics, Ca2+ uptake, deregulation of mitochondrial quality system mechanisms, and alteration of autophagic flux, with a concomitant decrease in MAM number [3]. In human induced pluripotent stem cell-derived neuronal cells of Wolfram syndrome patients, loss of Wfs1 compromises mitochondrial function as the interaction between VDAC1 and Wfs1 is lost, while restoring Wfs1 levels can reinstate the interaction, increase MAMs and the mitochondrial network, and improve cell viability and bioenergetics [4].
In conclusion, Wfs1 is essential for maintaining normal mitochondrial function and MAM integrity. Research on Wfs1 knockout or conditional knockout mouse models has revealed its significance in the pathogenesis of Wolfram syndrome, highlighting its potential as a therapeutic target for this and related rare diseases with mitochondrial defects [3,4].
References:
1. Kõks, Sulev. 2023. Genomics of Wolfram Syndrome 1 (WFS1). In Biomolecules, 13, . doi:10.3390/biom13091346. https://pubmed.ncbi.nlm.nih.gov/37759745/
2. Lim, Hui Dong, Lee, So Min, Yun, Ye Jin, Oh, Seung-Ha, Lee, Sang-Yeon. 2023. WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome. In BMC medical genomics, 16, 79. doi:10.1186/s12920-023-01506-x. https://pubmed.ncbi.nlm.nih.gov/37041640/
3. Patergnani, Simone, Bataillard, Méghane S, Danese, Alberto, Delprat, Benjamin, Richard, Elodie M. 2024. The Wolfram-like variant WFS1E864K destabilizes MAM and compromises autophagy and mitophagy in human and mice. In Autophagy, 20, 2055-2066. doi:10.1080/15548627.2024.2341588. https://pubmed.ncbi.nlm.nih.gov/38651637/
4. Zatyka, Malgorzata, Rosenstock, Tatiana R, Sun, Congxin, Barrett, Timothy, Sarkar, Sovan. . Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome. In Stem cell reports, 18, 1090-1106. doi:10.1016/j.stemcr.2023.04.002. https://pubmed.ncbi.nlm.nih.gov/37163979/
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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