Threadgill D W, Dlugosz A A, Hansen L A, Tennenbaum T, Lichti U, Yee D, LaMantia C, Mourton T, Herrup K, Harris R C
Department of Genetics, Case Western Reserve University, Cleveland, OH 44106-4955, USA.
Science. 1995 Jul 14;269(5221):230-4. doi: 10.1126/science.7618084.
Gene targeting was used to create a null allele at the epidermal growth factor receptor locus (Egfr). The phenotype was dependent on genetic background. EGFR deficiency on a CF-1 background resulted in peri-implantation death due to degeneration of the inner cell mass. On a 129/Sv background, homozygous mutants died at mid-gestation due to placental defects; on a CD-1 background, the mutants lived for up to 3 weeks and showed abnormalities in skin, kidney, brain, liver, and gastrointestinal tract. The multiple abnormalities associated with EGFR deficiency indicate that the receptor is involved in a wide range of cellular activities.
基因打靶技术被用于在表皮生长因子受体基因座(Egfr)处创建一个无效等位基因。其表型取决于遗传背景。在CF-1背景下,表皮生长因子受体(EGFR)缺陷会导致植入前死亡,原因是内细胞团退化。在129/Sv背景下,纯合突变体在妊娠中期因胎盘缺陷而死亡;在CD-1背景下,突变体存活长达3周,并在皮肤、肾脏、大脑、肝脏和胃肠道出现异常。与EGFR缺陷相关的多种异常表明该受体参与了广泛的细胞活动。