Pkdcc-flox 基因敲除小鼠

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产品名称

Pkdcc-flox 基因敲除小鼠

产品编号

S-CKO-00506

品系全称

C57BL/6JCya-Pkdccem1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-106522-Pkdcc-B6J-VA

品系状态

使用本品系发表的文献需注明: Pkdcc-flox 基因敲除小鼠 mice (Strain S-CKO-00506) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量
cKO小鼠库模型

基本信息

基因研究概述

质控标准

基因
基因全称
protein kinase domain containing, cytoplasmic
基因别称
Adtk1,ESTM17,MAd1,Sgk493,Vlk
染色体号
Chr 17 (Mouse)
转录本 ID
NCBI: NM_134117.2 | Ensembl: ENSMUST00000170794
修饰方式
条件性基因敲除
靶向范围
Exon 3~5
敲除长度
~1765 bp
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:2147077Homozygous null mutants die on postnatal day P0, apparently due to ineffective respiration. They exhibit shortening of all the long bones of the fore- and hindlimbs, cleft palate, sternal dysraphia and deficient mineralization or other anomalies of multiple bones throughout the body.
PKDCC,即“蛋白质激酶结构域含细胞质”,是一种编码细胞质蛋白的基因。这种蛋白质被认为是一种酪氨酸激酶,在软骨生成和骨骼发育过程中发挥作用。在人类和小鼠中,PKDCC基因的突变与骨骼发育异常有关,如肢体短缩、软骨细胞增殖增加、骨矿物质化延迟等[1][2][4][5]。

研究表明,PKDCC基因的突变与多种骨骼疾病相关。例如,双等位基因的PKDCC突变可能导致肢体短缩,这是一种罕见的常染色体隐性骨骼发育不良,表现为肢体短缩、面容畸形、听力损失等特征[1][4][6]。此外,PKDCC基因的突变还可能与非综合征性唇腭裂有关,这是一种常见的先天性出生缺陷,表现为唇裂、腭裂等面部畸形[3]。

PKDCC基因的表达在多种组织中均有发现,包括软骨细胞、肝脏细胞和肺组织等。研究表明,PKDCC基因的表达在软骨生成和骨骼发育过程中具有重要作用。在软骨细胞中,PKDCC基因的表达与软骨细胞增殖、分化和骨矿物质化有关。在肝脏细胞中,PKDCC基因的表达与肝细胞分泌蛋白的调节有关,可能参与肝脏的稳态和修复过程。在肺组织中,PKDCC基因的表达与肺泡上皮细胞的分化和肺组织的发育有关[1][4][5][7]。

近年来,随着基因组测序技术的发展,PKDCC基因的突变与多种疾病的关系得到了深入研究。研究发现,PKDCC基因的突变不仅与骨骼疾病相关,还可能与肺癌等其他疾病有关。例如,有研究表明,一种新型的ALK融合基因,其基因断裂点位于SLC8A1和PKDCC之间,对ALK酪氨酸激酶抑制剂WX-0593有良好的反应[2]。此外,还有研究发现,PKDCC基因的表达与肌肉和骨骼的遗传结构有关,可能参与肌肉和骨骼的发育和代谢过程[8]。

综上所述,PKDCC基因是一种编码细胞质蛋白的基因,在软骨生成和骨骼发育过程中发挥作用。PKDCC基因的突变与多种骨骼疾病和其他疾病相关,如肢体短缩、面容畸形、肺癌等。PKDCC基因的表达在多种组织中均有发现,包括软骨细胞、肝脏细胞和肺组织等。随着基因组测序技术的发展,PKDCC基因的突变与多种疾病的关系得到了深入研究,为疾病的治疗和预防提供了新的思路和策略。

参考文献:
1. Wang, Jing, Yu, Huijun, Zhang, Xiaoying, Gu, Ying, Lin, Li. . Prenatal diagnosis of a skeletal disorder characterized by rhizomelic shortening of limbs caused by compound heterozygous variants in the PKDCC gene: Case report and literature review. In Molecular genetics & genomic medicine, 12, e2477. doi:10.1002/mgg3.2477. https://pubmed.ncbi.nlm.nih.gov/38860479/
2. Du, Jia, Wang, Baoming, Li, Mengxia, Ma, Tonghui, Shan, Jinlu. 2022. A Novel Intergenic Gene Between SLC8A1 and PKDCC-ALK Fusion Responds to ALK TKI WX-0593 in Lung Adenocarcinoma: A Case Report. In Frontiers in oncology, 12, 898954. doi:10.3389/fonc.2022.898954. https://pubmed.ncbi.nlm.nih.gov/35847849/
3. Mohammed, Jaaved, Arora, Neha, Matthews, Harold S, Selleri, Licia, Wysocka, Joanna. 2024. A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis. In eLife, 13, . doi:10.7554/eLife.82564. https://pubmed.ncbi.nlm.nih.gov/38483448/
4. Sajan, Samin A, Ganesh, Jaya, Shinde, Deepali N, Winter, Susan, Tang, Sha. 2018. Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features. In Journal of medical genetics, 56, 850-854. doi:10.1136/jmedgenet-2018-105639. https://pubmed.ncbi.nlm.nih.gov/30478137/
5. Imuta, Yu, Nishioka, Noriyuki, Kiyonari, Hiroshi, Sasaki, Hiroshi. . Short limbs, cleft palate, and delayed formation of flat proliferative chondrocytes in mice with targeted disruption of a putative protein kinase gene, Pkdcc (AW548124). In Developmental dynamics : an official publication of the American Association of Anatomists, 238, 210-22. doi:10.1002/dvdy.21822. https://pubmed.ncbi.nlm.nih.gov/19097194/
6. Pagnamenta, Alistair T, Belles, Rebecca S, Salbert, Bonnie Anne, Kariminejad, Ariana, Taylor, Jenny C. 2023. The prevalence and phenotypic range associated with biallelic PKDCC variants. In Clinical genetics, 104, 121-126. doi:10.1111/cge.14324. https://pubmed.ncbi.nlm.nih.gov/36896672/
7. Pantasis, Sophia, Friemel, Juliane, Brütsch, Salome Mirjam, Werner, Sabine, Bordoli, Mattia Renato. 2022. Vertebrate lonesome kinase modulates the hepatocyte secretome to prevent perivascular liver fibrosis and inflammation. In Journal of cell science, 135, . doi:10.1242/jcs.259243. https://pubmed.ncbi.nlm.nih.gov/35293576/
8. Jung, Jongyun, Wu, Qing. 2023. Shared Genetic Architecture between Muscle and Bone: Identification and Functional Implications of EPDR1, PKDCC, and SPTBN1. In bioRxiv : the preprint server for biology, , . doi:10.1101/2023.05.14.540743. https://pubmed.ncbi.nlm.nih.gov/37292779/