Cell · 1993 · 2.9K citations · 44 references
Life SciencesDevelopmental BiologyGeneticsEmbryogenesisMorphogenesisOrganogenesisDevelopmental MutationsFetal GrowthGenetics Of Growth DisordersGrowth DisordersMuscle DevelopmentGrowth DeficiencyInsulin-like Growth Factor 1 DeficiencyInsulin-like Growth Factor 1 Receptor DefectsInsulin-like Growth Factor DeficiencyInsulin-like Growth Factor GeneticsInsulin-like Growth Factor-1Insulin-like Growth FactorsTargeted Gene Disruption
IGFs are essential for mouse embryonic development, as illustrated by distinct phenotypic differences among Igf-1, Igf-2, and Igf1r null mutants. Igf-1 null mice exhibit severe growth restriction (≈60 % of normal birthweight) with variable survival, whereas Igf1r null mice die at birth with more pronounced growth failure (≈45 % of normal size) and widespread organ hypoplasia; double mutants involving Igf1r show similar phenotypes, while combinations of Igf-1 or Igf-2 with Igf1r further exacerbate dwarfism to about 30 % of normal size.
Newborn mice homozygous for a targeted disruption of insulin-like growth factor gene (Igf-1) exhibit a growth deficiency similar in severity to that previously observed in viable Igf-2 null mutants (60% of normal birthweight). Depending on genetic background, some of the Igf-1(-/-) dwarfs die shortly after birth, while others survive and reach adulthood. In contrast, null mutants for the Igf1r gene die invariably at birth of respiratory failure and exhibit a more severe growth deficiency (45% normal size). In addition to generalized organ hypoplasia in Igf1r(-/-) embryos, including the muscles, and developmental delays in ossification, deviations from normalcy were observed in the central nervous system and epidermis. Igf-1(-/-)/Igf1r(-/-) double mutants did not differ in phenotype from Igf1r(-/-) single mutants, while in Igf-2(-)/Igf1r(-/-) and Igf-1(-/-)/Igf-2(-) double mutants, which are phenotypically identical, the dwarfism was further exacerbated (30% normal size). The roles of the IGFs in mouse embryonic development, as revealed from the phenotypic differences between these mutants, are discussed.
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Role of insulin-like growth factors in embryonic and postnatal growth
Julie C. Baker, Jeh-Ping Liu, Elizabeth J. Robertson et al. · Cell · 1993 · 2.4K citations
A. Ullrich, Andrew Gray, Albert W. Tam et al. · The EMBO Journal · 1986 · 1.9K citations · Full text