Novel ENU-induced eye mutations in the mouse: models for human eye disease
Novel ENU-induced eye mutations in the mouse: models for human eye disease
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DOI：
10.1093/hmg/11.7.755
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发表时间：
2002-04-01
影响因子：
3.5
通讯作者：
Cross, SH
中科院分区：
文献类型：
--
作者：
Thaung, C;West, K;Cross, SH
我们进行了一项全基因组筛选，以寻找在小鼠中引起眼睛和视力异常的新型n -乙基-n -亚硝基源诱导的突变，并确定了25种影响眼睛所有部位的遗传表型。基因定位、互补和分子分析的结合显示，其中14个是先前确定的在眼睛病理生理中起作用的基因突变，即Pax6、Mitf、Egfr和Pde6b。其他许多位点位于缺乏候选基因的基因组区域，这些候选基因定义了新的基因座。其中四个突变体表现出相似的放大瞳孔表型，但似乎不是等位基因，其中至少两个在纯合子时是胚胎致死的。这种眼睛突变的收集对于理解基因功能、解剖蛋白质功能和作为人类眼病的模型将是有价值的。
We have carried out a genome-wide screen for novel N-ethyl-N-nitrosourea-induced mutations that give rise to eye and vision abnormalities in the mouse and have identified 25 inherited phenotypes that affect all parts of the eye. A combination of genetic mapping, complementation and molecular analysis revealed that 14 of these are mutations in genes previously identified to play a role in eye pathophysiology, namely Pax6, Mitf, Egfr and Pde6b. Many of the others are located in genomic regions lacking candidate genes and these define new loci. Four of the mutants display a similar phenotype of dilated pupils but do not appear to be allelic, and at least two of these are embryonic lethal when homozygous. This collection of eye mutations will be valuable for understanding gene function, for dissecting protein function and as models of human eye disease.