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Microphthalmia is a significant eye defect owing to its profound effects on visual acuity. Microphthalmia accounts for 3.2%–11.2% of blind children. To date, there has been no cure for this disease. In this study, we aimed to identify microphthalmia-like mutant mouse and study its growth and development. In this study, we identified mutant mice exhibiting eye abnormalities using a forward genetics approach in a C57BL/6J cohort. To identify ocular characteristics of the mutant mouse, we conducted systematic evaluations including basic measurements (body length, body weight, and palpebral fissure width), optical coherence tomography (OCT), optomotor response (OMR), and hematoxylin-eosin (H&E) staining. At early developmental stages, there are notable differences in body length and weight between mutant and normal mice. Mutant mice displayed microphthalmia-like phenotypes, characterized by significantly reduced eyeball and lens sizes as well as decreased anterior chamber depth compared to wild-type controls. Visual impairment was evident in the mutant mice. Mutant mice exhibited rosette-like structures in the retina without impacting other organs of the body. Overall, these results support microphthalmia-like mutant mouse as a valuable tool for studying this congenital ocular malformation.
小眼畸形(Microphthalmia)是一种严重影响视敏度的重大眼部缺陷。小眼畸形在失明儿童中占比达3.2%–11.2%。迄今为止,该疾病尚无治愈方案。本研究旨在鉴定出类小眼畸形突变小鼠,并对其生长发育情况开展研究。本研究通过正向遗传学方法,在C57BL/6J小鼠群中筛选出携带眼部异常表型的突变小鼠。为明确该突变小鼠的眼部特征,我们开展了系统性评估,包括基础测量(体长、体重、睑裂宽度)、光学相干断层扫描(Optical Coherence Tomography, OCT)、视动反应(Optomotor Response, OMR)以及苏木精-伊红(Hematoxylin-Eosin, H&E)染色。在发育早期,突变小鼠与正常小鼠的体长和体重存在显著差异。与野生型对照小鼠相比,突变小鼠呈现类小眼畸形表型,具体表现为眼球与晶状体体积显著缩小,前房深度降低。突变小鼠表现出视觉功能受损。突变小鼠视网膜中出现玫瑰花结样结构,但未影响身体其他器官。综上,本研究结果表明,类小眼畸形突变小鼠是研究此类先天性眼部畸形的理想工具。



