Wdr19-KO 基因敲除小鼠

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产品名称

Wdr19-KO 基因敲除小鼠

产品编号

S-KO-18693

品系全称

C57BL/6JCya-Wdr19em1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-213081-Wdr19-B6J-VA

品系状态

使用本品系发表的文献需注明: Wdr19-KO 基因敲除小鼠 mice (Strain S-KO-18693) 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
WD repeat domain 19
基因别称
C330027H04Rik,D330023L08Rik,DYF2,Ift144,PWDMP,mKIAA1638
染色体号
Chr 5 (Mouse)
转录本 ID
NCBI: NM_001359879 | Ensembl: ENSMUST00000203653
修饰方式
全身性基因敲除
靶向范围
Exon 8~12
敲除长度
~3.1 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:2443231Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E10.
Wdr19,也称为WD重复蛋白19,是一种编码WD重复结构域的蛋白质。WD重复是一种高度保守的结构域,存在于多种蛋白质中,参与多种生物学过程,包括信号转导、细胞周期调控和蛋白质复合物形成。Wdr19在细胞内发挥重要作用,参与多种细胞功能,包括细胞分裂、细胞周期调控和细胞凋亡。

Wdr19与多种疾病相关,包括Stargardt病、视网膜色素变性、肾小球肾炎、胰腺疾病和Caroli综合征。在Stargardt病中,Wdr19基因的变异与Stargardt样临床表现相关,表现为夜盲症、色觉异常、视乳头周围光感受器萎缩和黄斑区保留[1]。在视网膜色素变性中,Wdr19基因的变异与视网膜变性相关,表现为光感受器功能障碍和视网膜萎缩[2]。在肾小球肾炎中,Wdr19基因的变异与肾小球肾炎相关,表现为非肾病性蛋白尿和肾小球硬化[3]。在胰腺疾病中,Wdr19基因的变异与胰腺炎相关,表现为反复发作的胰腺炎和胰腺萎缩[4]。在Caroli综合征中,Wdr19基因的变异与肝内胆管扩张相关,表现为肝内胆管扩张和肝硬化[5]。

Wdr19基因的变异也与骨骼发育异常相关,表现为短肋胸廓发育不良和并指[6]。Wdr19基因的变异还与前列腺癌相关,表现为前列腺癌组织和癌旁组织中Wdr19基因的表达上调[7]。

Wdr19基因的变异也与多种肾脏疾病相关,包括肾小球肾炎和肾囊肿[8]。Wdr19基因的变异还与肝脏疾病相关,表现为肝内胆管扩张和肝硬化[9]。

综上所述,Wdr19是一种重要的蛋白质,参与多种生物学过程,包括细胞分裂、细胞周期调控和细胞凋亡。Wdr19基因的变异与多种疾病相关,包括Stargardt病、视网膜色素变性、肾小球肾炎、胰腺疾病和Caroli综合征。Wdr19基因的变异还与骨骼发育异常和前列腺癌相关。Wdr19基因的研究有助于深入理解Wdr19在疾病发生中的作用机制,为疾病的治疗和预防提供新的思路和策略。

参考文献:
1. Sajovic, Jana, Meglič, Andrej, Volk, Marija, Hawlina, Marko, Fakin, Ana. 2023. Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene. In Genes, 14, . doi:10.3390/genes14020291. https://pubmed.ncbi.nlm.nih.gov/36833218/
2. Kim, Yoon-Jeon, Kim, You-Na, Yoon, Young-Hee, Lee, Beom-Hee, Lee, Joo-Yong. 2021. Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort. In Genes, 12, . doi:10.3390/genes12050675. https://pubmed.ncbi.nlm.nih.gov/33946315/
3. Kaynar, K, Güvercin, B, Güler, Ö, Mungan, S, Çağlayan, E. . Is C1q nephropathy associated with a WDR19 gene mutation? A case report. In Hippokratia, 25, 87-90. doi:. https://pubmed.ncbi.nlm.nih.gov/35937515/
4. Keyser, Michelle Nguyen, Huang, Maria, Newton, Kimberly, Beauchamp-Walters, Julia, Bird, Lynne M. 2022. A unique pancreatic phenotype in a child with a WDR19-related ciliopathy: A case report and literature review of pancreatic involvement in ciliopathies. In American journal of medical genetics. Part A, 188, 2242-2245. doi:10.1002/ajmg.a.62746. https://pubmed.ncbi.nlm.nih.gov/35362211/
5. Nunziata, Annamaria, Antropoli, Alessio, Bianco, Lorenzo, Bandello, Francesco, Parodi, Maurizio Battaglia. 2025. WDR19-associated retinopathy presenting with adult-onset Stargardt-like phenotype. In Ophthalmic genetics, , 1-4. doi:10.1080/13816810.2025.2463145. https://pubmed.ncbi.nlm.nih.gov/39967245/
6. Halbritter, Jan, Porath, Jonathan D, Diaz, Katrina A, Hildebrandt, Friedhelm, Otto, Edgar A. 2013. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. In Human genetics, 132, 865-84. doi:10.1007/s00439-013-1297-0. https://pubmed.ncbi.nlm.nih.gov/23559409/
7. Peng, Ying, Zhou, Lin, Chen, Jing, Liang, Changbiao, Xie, Wanqin. 2023. Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting. In BMC medical genomics, 16, 318. doi:10.1186/s12920-023-01753-y. https://pubmed.ncbi.nlm.nih.gov/38062428/
8. Lin, Biaoyang, White, James T, Utleg, Angelita G, Hood, Leroy, Nelson, Peter S. . Isolation and characterization of human and mouse WDR19,a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium. In Genomics, 82, 331-42. doi:. https://pubmed.ncbi.nlm.nih.gov/12906858/
9. Liu, Lingling, Huang, Yuan, Fang, Feng, Zhou, Hua, Liu, Xinglou. 2024. A case report of intrahepatic bile duct dilatation caused by WDR19 gene mutation and presented as Caroli syndrome. In Translational pediatrics, 13, 682-689. doi:10.21037/tp-23-574. https://pubmed.ncbi.nlm.nih.gov/38715676/