Targeted Disruption of Mouse EGF receptor: Effect of Genetic Background on Mutant Phenotype

TLDR

Gene targeting was used to create a null allele at the epidermal growth factor receptor locus (Egfr). The phenotype varied with genetic background: CF‑1 embryos died peri‑implantation, 129/Sv mutants died mid‑gestation from placental defects, CD‑1 mutants survived up to three weeks with skin, kidney, brain, liver, and gastrointestinal abnormalities, indicating EGFR’s role in diverse cellular activities.

Abstract

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.