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
Mammalian Genetics Laboratory, ABL-Basic Research Program, NCI-Frederick Cancer Research and Development Center, Frederick, Maryland 21702.
Nat Genet. 1994 Nov;8(3):256-63. doi: 10.1038/ng1194-256.
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 murine mi mutations, which vary in both their mode of inheritance and in the cell types they affect. These molecular data, combined with the extensive body of genetic data accumulated for murine mi, shed light on the phenotypic and developmental consequences of mi mutations and offer a mouse model for WS2.
小鼠小眼畸形（mi）基因的突变会影响包括黑素细胞、破骨细胞和肥大细胞在内的多种细胞类型的发育。最近，在2型瓦登伯格综合征（WS2）患者中发现了人类mi基因（MITF）的突变，WS2是一种与听力丧失和色素紊乱相关的显性遗传综合征。我们已经对与八个小鼠mi突变相关的分子缺陷进行了表征，这些突变在遗传模式和受影响的细胞类型上都有所不同。这些分子数据，结合为小鼠mi积累的大量遗传数据，揭示了mi突变的表型和发育后果，并为WS2提供了一个小鼠模型。
