Pde6h-KO 基因敲除小鼠

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产品名称

Pde6h-KO 基因敲除小鼠

产品编号

S-KO-15187

品系全称

C57BL/6JCya-Pde6hem1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-78600-Pde6h-B6J-VA

品系状态

使用本品系发表的文献需注明: Pde6h-KO 基因敲除小鼠 mice (Strain S-KO-15187) 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
phosphodiesterase 6H, cGMP-specific, cone, gamma
基因别称
A930033D18Rik,PDEgamma
染色体号
Chr 6 (Mouse)
转录本 ID
NCBI: NM_023898.4 | Ensembl: ENSMUST00000137768
修饰方式
全身性基因敲除
靶向范围
Exon 2~4
敲除长度
~4006 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:1925850Homozygous mutation of this gene does not affect the retina or photoreceptor function.
Pde6h,也称为磷酸二酯酶6H,是一种在视杆和视锥细胞中表达的蛋白质,属于磷酸二酯酶6家族。该蛋白质在视觉信号转导过程中发挥着关键作用,负责降解细胞内环状鸟苷酸(cGMP),从而调节光感受器的敏感性。Pde6h的表达主要局限于视网膜中,对于视觉功能的维持至关重要[1,2,3,4,5,6,7,8,9,10]。

在人类中,Pde6h基因的突变会导致多种视觉障碍,包括色盲和色觉异常。Pde6h基因突变导致的色盲是一种常染色体隐性遗传病,表现为对某些颜色的识别能力下降或丧失。此外,Pde6h基因突变还与一种名为色觉异常的疾病相关,该疾病是一种罕见的先天性视力丧失,主要表现为对颜色的识别能力完全丧失[1,2,3,4,5,6,7,8,9,10]。

Pde6h基因在视杆和视锥细胞中表达,对于视觉功能的维持至关重要。Pde6h基因的突变会导致多种视觉障碍,包括色盲和色觉异常。此外,Pde6h基因的表达和功能还受到甲状腺激素和免疫细胞浸润等因素的调控。Pde6h基因的研究有助于深入理解视觉信号转导的分子机制,为视觉障碍的预防和治疗提供新的思路和策略。

参考文献:
1. Hassall, Mark M, Barnard, Alun R, MacLaren, Robert E. 2017. Gene Therapy for Color Blindness. In The Yale journal of biology and medicine, 90, 543-551. doi:. https://pubmed.ncbi.nlm.nih.gov/29259520/
2. El Moussawi, Zeinab, Boueiri, Marguerita, Al-Haddad, Christiane. 2021. Gene therapy in color vision deficiency: a review. In International ophthalmology, 41, 1917-1927. doi:10.1007/s10792-021-01717-0. https://pubmed.ncbi.nlm.nih.gov/33528822/
3. Baxter, Megan F, Borchert, Grace A. 2024. Gene Therapy for Achromatopsia. In International journal of molecular sciences, 25, . doi:10.3390/ijms25179739. https://pubmed.ncbi.nlm.nih.gov/39273686/
4. Wu, Zixuan, Fang, Chi, Hu, Yi, Yao, Xiaolei, Peng, Qinghua. 2024. Bioinformatic validation and machine learning-based exploration of purine metabolism-related gene signatures in the context of immunotherapeutic strategies for nonspecific orbital inflammation. In Frontiers in immunology, 15, 1318316. doi:10.3389/fimmu.2024.1318316. https://pubmed.ncbi.nlm.nih.gov/38605967/
5. Georgiou, Michalis, Robson, Anthony G, Fujinami, Kaoru, Webster, Andrew R, Michaelides, Michel. 2024. Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes. In Progress in retinal and eye research, 100, 101244. doi:10.1016/j.preteyeres.2024.101244. https://pubmed.ncbi.nlm.nih.gov/38278208/
6. Brennenstuhl, Christina, Tanimoto, Naoyuki, Burkard, Markus, Wissinger, Bernd, Lukowski, Robert. 2015. Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. In The Journal of biological chemistry, 290, 10242-55. doi:10.1074/jbc.M114.611921. https://pubmed.ncbi.nlm.nih.gov/25739440/
7. Huang, Junming, Li, Bowen, Wei, Huangwei, Mi, Hua, Chen, Shaohua. 2024. Integrative analysis of gene expression profiles of substantia nigra identifies potential diagnosis biomarkers in Parkinson's disease. In Scientific reports, 14, 2167. doi:10.1038/s41598-024-52276-0. https://pubmed.ncbi.nlm.nih.gov/38272954/
8. Cheng, Yuejuan, Xu, Jiaqian, Fu, Yuanshuai, He, Nisha. 2020. Expression and Regulation of pde6h by Thyroid Hormone During Metamorphosis in Paralichthys olivaceus. In Frontiers in physiology, 11, 244. doi:10.3389/fphys.2020.00244. https://pubmed.ncbi.nlm.nih.gov/32300306/
9. Blumer, Moritz, Brown, Tom, Freitas, Mariella Bontempo, Lim, Burton K, Hiller, Michael. 2022. Gene losses in the common vampire bat illuminate molecular adaptations to blood feeding. In Science advances, 8, eabm6494. doi:10.1126/sciadv.abm6494. https://pubmed.ncbi.nlm.nih.gov/35333583/
10. Solaki, Maria, Baumann, Britta, Reuter, Peggy, Wissinger, Bernd, Kohl, Susanne. 2022. Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. In Human mutation, 43, 832-858. doi:10.1002/humu.24371. https://pubmed.ncbi.nlm.nih.gov/35332618/