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Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences

Nature Genetics volume 8, pages 256–263 (1994)Cite this article

Abstract

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.

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Author notes

  1. Karen J. Moore

    Present address: Millenium, Inc., 640 Memorial Drive, 5th Floor, Cambridge, Massachusetts, 02139, USA

Authors and Affiliations

  1. Mammalian Genetics Laboratory, ABL-Basic Research Program, NCI-Frederick Cancer Research and Development Center, Frederick, Maryland, 21702, USA

    Eiríkur Steingrímsson, Karen J. Moore, Neal G. Copeland & Nancy A. Jenkins

  2. Department of Veterinary Pathobiology, College of Veterinary Medicine, Texas A & M University, College Station, Texas, 77843, USA

    M. Lynn Lamoreux

  3. Laboratories of Molecular Biophysics, Howard Hughes Medical Institute, The Rockefeller University, 1230 York Avenue, New York, New York, 10021, USA

    Adrian R. Ferré-D'Amaré & Stephen K. Burley

  4. Department of Veterinary Anatomy and Public Health, College of Veterinary Medicine, Texas A & M University, College Station, Texas, 77843, USA

    Debra C. Sanders Zimring & Loren C. Skow

  5. Laboratory of Viral and Molecular Pathogenesis, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, 20892, USA

    Colin A. Hodgkinson & Heinz Arnheiter

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Steingrímsson, E., Moore, K., Lamoreux, M. et al. Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Nat Genet 8, 256–263 (1994). https://doi.org/10.1038/ng1194-256

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