ISOLATION OF CONGENITAL STATIONARY NIGHT BLINDNESS GENES
先天性静止性夜盲症基因的分离
基本信息
- 批准号:6151100
- 负责人:
- 金额:$ 20.77万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:1999
- 资助国家:美国
- 起止时间:1999-02-01 至 2003-01-31
- 项目状态:已结题
- 来源:
- 关键词:clinical research congenital vision disorder gene complementation gene expression gene mutation genetic markers genetic screening genetically modified animals genotype human genetic material tag in situ hybridization laboratory mouse linkage mapping molecular cloning neural transmission night blindness northern blottings nucleic acid sequence phenotype polymerase chain reaction restriction fragment length polymorphism rod cell sequence tagged sites sex chromosomes southern blotting synapses
项目摘要
Identifying and characterizing the function of the numerous proteins
that are required for normal visual function is an important goal in
biomedical research. We describe a mutant mouse model whose phenotype
mimics a human disease called congenital stationary night blindness
(CSNB). The mouse mutation has been named nob because its
electroretinogram has no b-wave. Our preliminary studies have localized
the nob gene to the X-chromosome, in a region syntenic to that in humans
that contains the genes responsible for CSNB1, CSNB2 and CSNB4, and two
forms of retinitis pigmentosa (RP2 and RP3).
The specific aims are: (1) localize the nob gene to a specific region
on the X-chromosome, (2) identify the mouse nob gene by positional
cloning and (3) determine if mutations in the human homologue of nob are
responsible for eye disease. We hypothesize that the isolation and
characterization of the mutation in this gene responsible for disrupting
communication between the outer and inner retina will provide insight
into the complex mechanism of synaptic transmission in the outer retina.
Further, this mutant mouse will provide a model system in which to study
gene therapy in the retina. The ultimate goal of these studies is to
gain a more complete understanding of the mutation and its role in
disrupting normal visual function, so that more targeted therapies can
be devised to either cure or treat associated eye diseases.
鉴定和鉴定多种蛋白质的功能
是正常视觉功能所必需的,这是
生物医学研究。我们描述了一种突变的小鼠模型,其表型
模仿一种名为先天性静止性夜盲的人类疾病
(CSNB)。小鼠的突变被命名为nob,因为它的
视网膜电流图没有b波。我们的初步研究已本地化
X染色体的nob基因,位于与人类同源的区域
它包含负责CSNB1、CSNB2和CSNB4的基因,以及两个
视网膜色素变性的类型(RP2和RP3)。
具体目标是:(1)将nob基因定位于特定区域。
在X染色体上,(2)通过定位鉴定小鼠nob基因
克隆和(3)确定人类nob同源物中的突变是否
对眼疾负有责任。我们假设隔绝和
该基因突变导致基因突变的特征
视网膜外部和内部之间的交流将提供洞察力
研究视网膜外部突触传递的复杂机制。
此外,这个突变的小鼠将提供一个研究的模型系统
视网膜中的基因疗法。这些研究的最终目标是
更全面地了解突变及其在疾病中的作用
扰乱正常的视觉功能,以便更有针对性的治疗
被设计用于治愈或治疗相关的眼病。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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RONALD G GREGG其他文献
RONALD G GREGG的其他文献
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{{ truncateString('RONALD G GREGG', 18)}}的其他基金
Preclinical evaluation of a homing endonuclease gene therapy for adRP in models of P23H retinopathy.
P23H 视网膜病变模型中 adRP 归巢核酸内切酶基因疗法的临床前评估。
- 批准号:
10587797 - 财政年份:2023
- 资助金额:
$ 20.77万 - 项目类别:
Glycine subunit specific inhibition and ganglion cell visual responses
甘氨酸亚基特异性抑制和神经节细胞视觉反应
- 批准号:
10622520 - 财政年份:2019
- 资助金额:
$ 20.77万 - 项目类别:
Glycine subunit specific inhibition and ganglion cell visual responses
甘氨酸亚基特异性抑制和神经节细胞视觉反应
- 批准号:
10431808 - 财政年份:2019
- 资助金额:
$ 20.77万 - 项目类别: