Puk Oliver, Dalke Claudia, Favor Jack, de Angelis Martin Hrabé, Graw Jochen
Institutes of Developmental Genetics, GSF-National Research Center for Environment and Health, D-85764, Neuherberg, Germany.
Mamm Genome. 2006 Aug;17(8):851-7. doi: 10.1007/s00335-006-0019-5. Epub 2006 Aug 4.
In the mouse, only a few genes have been definitively associated with a small-eye phenotype; the paired-box gene Pax6 and the gene coding for the microphthalmia-associated transcription factor (Mitf). Mutant alleles were recovered by crude phenotype screens and their effects on eye size are relatively large. This feature points to a bias during screening for eye-size mutants, selecting preferentially more severe phenotypes. An unbiased method determining eye-size parameters in an observer-independent, quantitative manner is expected to pick up variations in other genes, which will be confirmed as pathologic mutations in confirmation crosses. The present study used optical low coherent interferometry (OLCI) to compare the axial eye length, the cornea and lens thicknesses, and the anterior chamber depth in four common wild-type, laboratory inbred strains (C57BL/6J, C3HeB/FeJ, 129S2/SvPasCrl, and BALB/cByJ) between 4 and 15 weeks of age. There were no differences between left and right eyes; differences between the size parameters of males and females have been observed only in a few cases. An optimal screening age for OLCI measurements was defined as 11 weeks of age. At this age, we checked two other inbred strains (AKR/J and DBA/2NCrl) as well as CD-1 outbred mice. CD-1 mice have the largest axial length. The most impressive differences among inbred strains were, first, the anterior chamber depth, where the DBA mice have significantly lower values than the other strains. Second, the cornea in C3H mice is approximately 20% thicker than in the other inbred strains. Finally, wild-type intervals (mean +/- 3 SD) for axial length, anterior chamber depth, and cornea and lens thicknesses were calculated allowing a quick identification of pathologic outliers.
在小鼠中，只有少数基因已被明确与小眼表型相关联；配对盒基因Pax6以及编码小眼相关转录因子（Mitf）的基因。通过粗略的表型筛选获得了突变等位基因，它们对眼睛大小的影响相对较大。这一特征表明在筛选眼睛大小突变体的过程中存在偏差，优先选择了更严重的表型。一种以观察者独立、定量的方式确定眼睛大小参数的无偏方法有望发现其他基因的变异，这些变异将在回交中被确认为病理性突变。本研究使用光学低相干干涉测量法（OLCI）比较了4至15周龄的四种常见野生型实验室近交系（C57BL/6J、C3HeB/FeJ、129S2/SvPasCrl和BALB/cByJ）小鼠的眼轴长度、角膜和晶状体厚度以及前房深度。左右眼之间没有差异；仅在少数情况下观察到了雄性和雌性大小参数之间的差异。OLCI测量的最佳筛选年龄被定义为11周龄。在这个年龄，我们检查了另外两个近交系（AKR/J和DBA/2NCrl）以及CD-1远交系小鼠。CD-1小鼠的眼轴长度最长。近交系之间最显著的差异，首先是前房深度，DBA小鼠的前房深度值明显低于其他品系。其次，C3H小鼠的角膜比其他近交系厚约20%。最后，计算了眼轴长度、前房深度以及角膜和晶状体厚度的野生型区间（平均值±3标准差），以便快速识别病理性异常值。
