Savinova O V, Sugiyama F, Martin J E, Tomarev S I, Paigen B J, Smith R S, John S W
The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.
BMC Genet. 2001;2:12. doi: 10.1186/1471-2156-2-12. Epub 2001 Aug 9.
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.
关于影响小鼠和其他哺乳动物眼压（IOP）的遗传因素，人们了解甚少。本研究的目的是确定基因不同的小鼠品系的眼压，评估年龄、性别和一天中的时间等因素在特定品系背景下对眼压的影响，并评估特定候选基因突变对眼压的影响。
基于30多种研究过的小鼠品系，平均眼压范围约为10至20 mmHg。性别通常不影响眼压，衰老会导致某些品系的眼压降低。大多数测试品系表现出昼夜节律，眼压在一天中的黑暗期最高。碳酸酐酶II基因（Car2n）的无效等位基因纯合不会改变眼压，而导致肥胖和糖尿病的瘦素受体基因（Leprdb）突变纯合会导致眼压升高。酪氨酸酶突变（Tyrc-2J）纯合的白化C57BL/6J小鼠的眼压高于其有色对应小鼠。
饲养在相同环境中的基因不同的小鼠品系具有广泛的眼压范围。这些眼压差异可能是由于品系间的遗传差异造成的，这为研究眼压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眼压的影响与人类和其他物种相似。评估的两个候选基因（Lepr和Tyr）中的突变导致眼压升高。这些研究表明，小鼠是研究眼压调节遗传学以及将眼压升高到有害水平的疾病过程的实用且强大的实验系统。
