Pjvk-KO 基因敲除小鼠

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产品名称

Pjvk-KO 基因敲除小鼠

产品编号

S-KO-16360

品系全称

C57BL/6JCya-Pjvkem1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-381375-Pjvk-B6J-VB

品系状态

使用本品系发表的文献需注明: Pjvk-KO 基因敲除小鼠 mice (Strain S-KO-16360) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量

基本信息

基因研究概述

质控标准

基因
基因全称
pejvakin
基因别称
Dfnb59,Gm1001
染色体号
Chr 2 (Mouse)
转录本 ID
NCBI: NM_001080711.2 | Ensembl: ENSMUST00000099986
修饰方式
全身性基因敲除
靶向范围
Exon 2~3
敲除长度
~1.9 kb
品系说明
该品系是基于策略设计时的数据库信息制作而成,建议您在购买前查询最新的数据库和相关文献,以获取最准确的表型信息。
表型提示
MGI:2685847Mice homozygous for a point mutation display increased auditory thresholds.
Pjvk基因编码了一种名为pejvakin的蛋白质,这种蛋白质在内耳的感觉毛细胞和第一级神经元的表达中起着重要作用。PJVK基因的突变是导致遗传性听力障碍的重要原因之一。PJVK基因突变导致DFNB59型常染色体隐性非综合征性听力障碍(AR-NSHI),临床表型包括纯音听力损失和听觉神经病谱系障碍(ANSD)。PJVK基因突变导致的听力障碍具有广泛的临床表型,包括纯音听力损失和涉及耳蜗和耳蜗后中央听觉通路的听力障碍[9]。

PJVK基因突变导致听力障碍的机制尚不清楚,但研究表明,PJVK基因突变可能导致耳蜗毛细胞和神经元的发育和功能异常。PJVK基因突变可能导致毛细胞和神经元的损伤和死亡,从而引起听力障碍[1,2,3,4,5,6,7,8,9]。

PJVK基因突变导致的听力障碍的治疗方法主要包括耳蜗植入和基因治疗。耳蜗植入可以帮助患者恢复部分听力,但PJVK基因突变导致的患者从耳蜗植入中获益有限。因此,基因治疗可能是一种更有前景的治疗方法。基因治疗是通过将正常的PJVK基因导入患者体内,以纠正PJVK基因突变导致的异常,从而恢复正常的听力功能[2,5]。

综上所述,PJVK基因突变是导致遗传性听力障碍的重要原因之一。PJVK基因突变导致的听力障碍具有广泛的临床表型,包括纯音听力损失和涉及耳蜗和耳蜗后中央听觉通路的听力障碍。PJVK基因突变导致听力障碍的机制尚不清楚,但研究表明,PJVK基因突变可能导致耳蜗毛细胞和神经元的发育和功能异常。PJVK基因突变导致的听力障碍的治疗方法主要包括耳蜗植入和基因治疗。PJVK基因突变的研究有助于深入理解遗传性听力障碍的发病机制,为疾病的治疗和预防提供新的思路和策略。

参考文献:
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. Salame, Malak, Bonnet, Crystel, Singh-Estivalet, Amrit, Petit, Christine, Houmeida, Ahmed. 2024. Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment. In Journal of applied genetics, , . doi:10.1007/s13353-024-00903-x. https://pubmed.ncbi.nlm.nih.gov/39230647/
4. 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/
5. Wang, Jian, Fan, Ying-ying, Wang, Shu-juan, Wang, Jin-ling, Qiu, Jian-hua. 2011. Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder. In PloS one, 6, e24000. doi:10.1371/journal.pone.0024000. https://pubmed.ncbi.nlm.nih.gov/21935370/
6. Zhang, Qiu-Jing, Lan, Lan, Li, Na, Han, Bing, Wang, Qiu-Ju. 2015. Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations. In Acta oto-laryngologica, 135, 211-6. doi:10.3109/00016489.2014.985799. https://pubmed.ncbi.nlm.nih.gov/25631766/
7. 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/
8. 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/
9. Kazmierczak, Marcin, Kazmierczak, Piotr, Peng, Anthony W, Franco, Santos J, Schwander, Martin. 2017. Pejvakin, a Candidate Stereociliary Rootlet Protein, Regulates Hair Cell Function in a Cell-Autonomous Manner. In The Journal of neuroscience : the official journal of the Society for Neuroscience, 37, 3447-3464. doi:10.1523/JNEUROSCI.2711-16.2017. https://pubmed.ncbi.nlm.nih.gov/28209736/