Griffith A J, Ji W, Prince M E, Altschuler R A, Meisler M H
Department of Human Genetics, University of Michigan, Ann Arbor 48109-0618, USA.
J Craniofac Genet Dev Biol. 1999 Jul-Sep;19(3):157-63.
The transgene insertional mutation 9257 on mouse chromosome 18 was originally identified by the circling behavior caused by vestibular abnormalities in heterozygous mutants. To characterize the homozygous phenotype, we generated F2 offspring from the cross (C57BL/6J-tg/+ x DBA/2J). Eye defects ranging in severity from microphthalmia to anophthalmia were observed in the tg/tg offspring. Dysmorphic development of the lens was evident as early as E10.5 in homozygous transgenic mice. Apparent agenesis of the lateral semicircular canal was evident at E14.5. Anomalies of nasomaxillary structures and olfactory neuroepithelium were present in heterozygous and homozygous transgenic mice. The 9257 mutation provides a model for analysis of the morphogenesis of these three neurosensory systems and their associated bony structures.
小鼠18号染色体上的转基因插入突变9257最初是通过杂合突变体前庭异常引起的转圈行为鉴定出来的。为了表征纯合表型，我们通过（C57BL/6J-tg/+ × DBA/2J）杂交产生了F2后代。在tg/tg后代中观察到从小眼症到无眼症不等的眼部缺陷。早在纯合转基因小鼠的E10.5时，晶状体的发育异常就很明显。在E14.5时，外侧半规管明显发育不全。杂合和纯合转基因小鼠均存在鼻上颌结构和嗅觉神经上皮的异常。9257突变提供了一个模型，用于分析这三个神经感觉系统及其相关骨结构的形态发生。
