Loss of the imprinted IGF2/cation-independent mannose 6-phosphate receptor results in fetal overgrowth and perinatal lethality

Michele M.H. Lau, Claire E.H. Stewart, Ziying Liu, Harshida Bhatt, Peter Rotwein, Colin L. Stewart

Research output: Contribution to journalArticlepeer-review

449 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2953-2963
Number of pages11
JournalGenes and Development
Volume8
Issue number24
DOIs
StatePublished - Dec 15 1994

Keywords

  • ES cells
  • Insulin-like growth factor II
  • T-hairpin
  • cardiomyopathy
  • genomic imprinting

ASJC Scopus subject areas

  • Genetics
  • Developmental Biology

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