C57BL/6JCya-Pjvkem1flox/Cya
Common Name:
Pjvk-flox
Product ID:
S-CKO-17737
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Pjvk-flox
Strain ID
CKOCMP-381375-Pjvk-B6J-VC
Gene Name
Product ID
S-CKO-17737
Gene Alias
Dfnb59; Gm1001
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
2
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Pjvkem1flox/Cya mice (Catalog S-CKO-17737) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000099986
NCBI RefSeq
NM_001080711
Target Region
Exon 2~3
Size of Effective Region
~1.9 kb
Detailed Document
Overview of Gene Research
Pjvk, also known as DFNB59 and encoding Pejvakin, is a gene within the gasdermin family [3,4,7]. Pejvakin is expressed in sensory hair cells and first-order neurons of the inner ear and is involved in generating auditory and neural signals in the inner ear [2,6]. Mutations in Pjvk cause autosomal recessive non-syndromic hearing impairment (AR-NSHI) of the DFNB59 type, and some cases may also show auditory neuropathy spectrum disorder (ANSD) [1].
In Pjvk -mutant mice, delivery of the PJVK transgene using the synthetic Anc80L65 vector led to robust exogenous pejvakin expression in hair cells and neurons of the cochlea and vestibular organs. This resulted in significant restoration of spiral ganglion neuron density and hair cells in the cochlea, partial recovery of sensorineural hearing impairment, and recovery of vestibular ganglion neurons and balance function to wild-type levels [2]. A knockin mouse model carrying the c.874G > A (p.G292R) variant was generated to study the auditory and vestibular phenotypes of DFNB59, as previous mouse models with different Pjvk defects showed phenotypic variability and inconsistency [5].
In conclusion, Pjvk plays a crucial role in inner-ear function, especially in auditory and vestibular systems. The study of Pjvk -mutant mouse models provides insights into the gene's function in these systems and offers potential for gene-therapy-based solutions for PJVK-related inner-ear deficits, specifically in treating hearing and balance disorders associated with Pjvk mutations [2,5].
References:
1. Domínguez-Ruiz, María, Rodríguez-Ballesteros, Montserrat, Gandía, Marta, Santarelli, Rosamaria, Del Castillo, Ignacio. 2022. Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder. In Genes, 13, . doi:10.3390/genes13010149. https://pubmed.ncbi.nlm.nih.gov/35052489/
2. Lu, Ying-Chang, Tsai, Yi-Hsiu, Chan, Yen-Huei, Wu, Chen-Chi, Cheng, Yen-Fu. 2022. Gene therapy with a synthetic adeno-associated viral vector improves audiovestibular phenotypes in Pjvk-mutant mice. In JCI insight, 7, . doi:10.1172/jci.insight.152941. https://pubmed.ncbi.nlm.nih.gov/36278489/
3. De Schutter, Elke, Roelandt, Ria, Riquet, Franck B, Wullaert, Andy, Vandenabeele, Peter. 2021. Punching Holes in Cellular Membranes: Biology and Evolution of Gasdermins. In Trends in cell biology, 31, 500-513. doi:10.1016/j.tcb.2021.03.004. https://pubmed.ncbi.nlm.nih.gov/33771452/
4. Ouyang, Xiaohu, Zhou, Junfen, Lin, Lan, Luo, Shanshan, Hu, Desheng. 2023. Pyroptosis, inflammasome, and gasdermins in tumor immunity. In Innate immunity, 29, 3-13. doi:10.1177/17534259221143216. https://pubmed.ncbi.nlm.nih.gov/36632024/
5. Cheng, Yen-Fu, Tsai, Yi-Hsiu, Huang, Chun-Ying, Hsu, Chuan-Jen, Wu, Chen-Chi. 2020. Generation and pathological characterization of a transgenic mouse model carrying a missense PJVK mutation. In Biochemical and biophysical research communications, 532, 675-681. doi:10.1016/j.bbrc.2020.07.101. https://pubmed.ncbi.nlm.nih.gov/32917362/
6. Mujtaba, Ghulam, Bukhari, Ihtisham, Fatima, Amara, Naz, Sadaf. 2012. A p.C343S missense mutation in PJVK causes progressive hearing loss. In Gene, 504, 98-101. doi:10.1016/j.gene.2012.05.013. https://pubmed.ncbi.nlm.nih.gov/22617256/
7. Zheng, Zengzhang, Deng, Wanyan, Lou, Xiwen, Gong, Sitang, Liu, Xing. . Gasdermins: pore-forming activities and beyond. In Acta biochimica et biophysica Sinica, 52, 467-474. doi:10.1093/abbs/gmaa016. https://pubmed.ncbi.nlm.nih.gov/32294153/
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