Krakowsky J M, Boissy R E, Neumann J C, Lingrel J B
Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati College of Medicine, OH 45267-0524.
Transgenic Res. 1993 Jan;2(1):14-20. doi: 10.1007/BF01977676.
Transgenic mice were produced by microinjection of a human A gamma-globin gene construct containing site 2 of the locus control region and the A gamma-globin gene with its 3' enhancer sequence. One transgenic mouse line (5'HS2 gamma en91) displayed an altered phenotype when the insertion event of this transgenic line was homozygous. These animals lack the normal pigmentation seen in their hemizygous and non-transgenic littermates, thus appearing white with unpigmented eyes. In addition, their eyes are underdeveloped, consistent with the phenotype associated with mutations at the microphthalmia (mi) locus. Backcrosses of transgenic mice with mi mutant mice result in phenotypes showing a lack of complementation, demonstrating that the site of transgene insertion is allelic with mi. Electron microscopic analysis of hair follicles and culturing of melanocytes from the skin of transgenic animals reveals an absence of cutaneous melanocytes in homozygotes and aberrant growth and morphology of the melanocytes isolated from hemizygous animals. The results presented here summarize the effects of this new allele of the mi locus.
通过显微注射包含基因座控制区2位点的人Aγ-珠蛋白基因构建体以及带有其3'增强子序列的Aγ-珠蛋白基因来制备转基因小鼠。当该转基因品系的插入事件为纯合子时，一个转基因小鼠品系（5'HS2γen91）表现出改变的表型。这些动物缺乏在其半合子和非转基因同窝仔中所见的正常色素沉着，因此呈现白色且眼睛无色素。此外，它们的眼睛发育不全，这与小眼症（mi）基因座突变相关的表型一致。转基因小鼠与mi突变小鼠的回交产生的表型显示缺乏互补性，表明转基因插入位点与mi等位。对转基因动物皮肤的毛囊进行电子显微镜分析以及对黑色素细胞进行培养发现，纯合子中不存在皮肤黑色素细胞，而从半合子动物分离的黑色素细胞生长异常且形态异常。此处呈现的结果总结了mi基因座这个新等位基因的作用。
