Lau M M, Stewart C E, Liu Z, Bhatt H, Rotwein P, Stewart C L
Roche Institute of Molecular Biology, Roche Research Center, Nutley, New Jersey 07110.
Genes Dev. 1994 Dec 15;8(24):2953-63. doi: 10.1101/gad.8.24.2953.
Murine embryos that inherit a nonfunctional insulin-like growth factor-II/cation-independent mannose 6-phosphate receptor (Igf2r) gene from their fathers are viable and develop normally into adults. However, the majority of mice inheriting the same mutated allele from their mothers die around birth, as a consequence of major cardiac abnormalities. These mice do not express IGF2R in their tissues, are 25-30% larger than their normal siblings, have elevated levels of circulating IGF2 and IGF-binding proteins, and exhibit a slight kink in their tails. These results show that Igf2r is paternally imprinted and reveal that the receptor is crucial for regulating normal fetal growth, circulating levels of IGF2, and heart development.
从父亲那里继承了无功能的胰岛素样生长因子-II/不依赖阳离子的甘露糖6-磷酸受体（Igf2r）基因的小鼠胚胎能够存活，并正常发育为成年个体。然而，大多数从母亲那里继承相同突变等位基因的小鼠在出生前后死亡，这是严重心脏异常的结果。这些小鼠的组织中不表达IGF2R，比正常的同窝小鼠大25% - 30%，循环中的IGF2和IGF结合蛋白水平升高，并且尾巴有轻微的弯曲。这些结果表明Igf2r是父系印记的，并揭示该受体对于调节正常胎儿生长、IGF2的循环水平和心脏发育至关重要。
