Osteopetro-rickets: a new congenital bone disorder

Two lethal mutations have been described in the rat: "osteopetrosis" (op) and "toothless" (tl). The op mutant can be cured by normal bone marrow infusion, while the tl mutant cannot. We report here additional data with regard to the tl mutant. The bone disease of the tl rat as in the op rat is associated with a precocious thymic atrophy, but bone lesions are quite different. In addition to classical osteopetrosis, the tl rat displays several features of rickets: broadening of the extremities of long bones, thickening of the epiphyseal plates, presence of osteoid areas. In addition, the persistence of embryonic characters, evidenced by high levels of alpha-fetoprotein, suggests that the developmental defect of bone is part of a more general process.