| First Author | Lau MM | Year | 1994 |
| Journal | Genes Dev | Volume | 8 |
| Issue | 24 | Pages | 2953-63 |
| PubMed ID | 8001817 | Mgi Jnum | J:22124 |
| Mgi Id | MGI:70010 | Doi | 10.1101/gad.8.24.2953 |
| Citation | Lau MM, et al. (1994) Loss of the imprinted IGF2/cation-independent mannose 6-phosphate receptor results in fetal overgrowth and perinatal lethality. Genes Dev 8(24):2953-63 |
| abstractText | 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. |
