TGFβ2 knockout mice have multiple developmental defects that are non-overlapping with other TGFβ knockout phenotypes

TLDR

The growth and differentiation factor transforming growth factor‑beta2 (TGFβ2) is thought to play important roles in multiple developmental processes. Targeted disruption of the TGFβ2 gene was undertaken to determine its essential role in vivo. The authors generated TGFβ2‑null mice via targeted gene disruption. TGFβ2‑null mice die perinatally and display a broad spectrum of cardiac, pulmonary, craniofacial, limb, spinal, ocular, inner ear, and urogenital defects, with no phenotypic overlap with TGFβ1 or TGFβ3 knockouts, indicating distinct, non‑compensated functions of the isoforms.

Abstract

The growth and differentiation factor transforming growth factor-beta2 (TGFbeta2) is thought to play important roles in multiple developmental processes. Targeted disruption of the TGFbeta2 gene was undertaken to determine its essential role in vivo. TGFbeta2-null mice exhibit perinatal mortality and a wide range of developmental defects for a single gene disruption. These include cardiac, lung, craniofacial, limb, spinal column, eye, inner ear and urogenital defects. The developmental processes most commonly involved in the affected tissues include epithelial-mesenchymal interactions, cell growth, extracellular matrix production and tissue remodeling. In addition, many affected tissues have neural crest-derived components and simulate neural crest deficiencies. There is no phenotypic overlap with TGFbeta1- and TGFbeta3-null mice indicating numerous non-compensated functions between the TGFbeta isoforms.