Hero I
Department of Morbid Anatomy, London Hospital, U.K.
Exp Eye Res. 1989 Aug;49(2):229-39. doi: 10.1016/0014-4835(89)90093-6.
The gene for microphthalmia in the homozygous cinnamon mouse produces colobomatous microphthalmia due to failure of closure of the optic fissure. Optic fissure formation and closure were examined in control cinnamon and homozygous microphthalmic foetuses from the 10th to the 13th gestational day using light and electron microscopy. This study showed that basal lamina degeneration and cell death occurred in the area of fusion in the control eyes. Examination of the optic fissure in homozygous microphthalmic foetuses showed cell death in the fissure margins, but there was failure of optic fissure closure associated with persistence of the basal lamina. It is therefore suggested that absence or abnormality of programmed disintegration of the basal lamina prevents fusion in the mutant leading to the development of colobomatous microphthalmia.
纯合肉桂色小鼠中的小眼畸形基因会导致视裂闭合失败,从而产生伴有缺损的小眼畸形。在妊娠第10天至第13天,利用光学显微镜和电子显微镜对对照肉桂色小鼠和纯合小眼畸形胎儿的视裂形成和闭合情况进行了检查。这项研究表明,对照眼中融合区域发生了基底膜变性和细胞死亡。对纯合小眼畸形胎儿视裂的检查显示,裂缘存在细胞死亡,但视裂闭合失败,基底膜持续存在。因此,有人提出,基底膜程序性崩解的缺失或异常会阻止突变体中的融合,从而导致伴有缺损的小眼畸形的发生。