Article
Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences.
Nature genetics - 1 Nov 1994
Steingrímsson E, Moore K J, Lamoreux M L, Ferré-D'Amaré A R, Burley S K, Zimring D C, Skow L C, Hodgkinson C A, Arnheiter H, Copeland N G
Abstract excerpt
Mutations in the mouse microphthalmia (mi) gene affect the development of a number of cell types including melanocytes, osteoclasts and mast cells. Recently, mutations in the human mi gene (MITF) were found in patients with Waardenburg Syndrome type 2 (WS2), a dominantly inherited syndrome associated with hearing loss and pigmentary disturbances. We have characterized the molecular defects associated with eight...
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