Intraocular pressure in genetically distinct mice: an update and strain survey.

Intraocular pressure in genetically distinct mice: an update and strain survey.
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DOI:
10.1186/1471-2156-2-12
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发表时间:
2001
期刊:
影响因子:
2.9
通讯作者:
John SW
John SW
中科院分区:
生物学3区
文献类型:
--
作者:
Savinova OV;Sugiyama F;Martin JE;Tomarev SI;Paigen BJ;Smith RS;John SW

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对影响小鼠和其他哺乳动物眼内压(IOP)的遗传因素知之甚少。本研究的目的是确定遗传上不同的小鼠品系的IOP,评估特定品系背景下年龄、性别和时间等因素对IOP的影响,并评估特定候选基因突变对IOP的影响。基于超过30种研究的小鼠品系,平均IOP范围约为10至20 mmHg。性别通常不影响IOP,并且老化导致某些菌株的IOP降低。大多数测试的菌株表现出昼夜节律,其中IOP在一天的黑暗期期间最高。碳酸酐酶II基因(Car 2n)的无效等位基因的纯合性不会改变IOP,而导致肥胖和糖尿病的瘦素受体基因(Leprdb)突变的纯合性会导致IOP升高。酪氨酸酶突变(Tyrc-2 J)纯合子的白化病C57 BL/6 J小鼠的IOP高于有色小鼠。在相同环境中饲养的遗传上不同的小鼠品系具有广泛的IOP。这些IOP差异可能是由于菌株间的遗传差异,为研究IOP的调节创造了强大的资源。年龄、一天中的时间、肥胖和糖尿病对小鼠IOP的影响与人类和其他物种相似。两个评估的候选基因(Lepr和Tyr)的突变导致IOP升高。这些研究表明,小鼠是一种实用而强大的实验系统,可用于研究IOP调节的遗传学和将IOP升高至有害水平的疾病过程。
Little is known about genetic factors affecting intraocular pressure (IOP) in mice and other mammals. The purpose of this study was to determine the IOPs of genetically distinct mouse strains, assess the effects of factors such as age, sex and time of day on IOP in specific strain backgrounds, and to assess the effects of specific candidate gene mutations on IOP. Based on over 30 studied mouse strains, average IOP ranges from approximately 10 to 20 mmHg. Gender does not typically affect IOP and aging results in an IOP decrease in some strains. Most tested strains exhibit a diurnal rhythm with IOP being the highest during the dark period of the day. Homozygosity for a null allele of the carbonic anhydrase II gene (Car2n) does not alter IOP while homozygosity for a mutation in the leptin receptor gene (Leprdb) that causes obesity and diabetes results in increased IOP. Albino C57BL/6J mice homozygous for a tyrosinase mutation (Tyrc-2J) have higher IOPs than their pigmented counterparts. Genetically distinct mouse strains housed in the same environment have a broad range of IOPs. These IOP differences are likely due to interstrain genetic differences that create a powerful resource for studying the regulation of IOP. Age, time of day, obesity and diabetes have effects on mouse IOP similar to those in humans and other species. Mutations in two of the assessed candidate genes (Lepr and Tyr) result in increased IOP. These studies demonstrate that mice are a practical and powerful experimental system to study the genetics of IOP regulation and disease processes that raise IOP to harmful levels.
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发表时间: 1997-07-01
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作者:
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作者:
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