Genetic disorders caused by the aberration of TGF signaling pathway and extracellular matrix proteins

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We previously reported that mutations in TGFB1 and TGFBR2 caused autosomal dominant disorders (Cammurati-Engelmann disease and Marfansyndrome type II). To reveal the relationship between unregulated production/adoption of extracellular matrix proteins andaberrant TGF signaling, I tried to establish model mice harboring mutant allelesofTgfb1orTgfbr2. However, all of chimera mice were infertile, and I could not accomplish this investigation program.