Mammalian Genome 9, 250-252 (1998). Mammalian Genome Incorporating Moose Genome © Springer-Verlag New York Inc. 1998 m`-enul22 Mitf is a missense mutation in the HLH dimerization domain Eirfkur Steingrimsson, l Jack Favor, 2 Adrian F. Ferre-D'Amare, 3 Neal G. Copeland,' Nancy A. Jenkins' 'Mammalian Genetics Laboratory, ABL-Basic Research Program, NCI-Frederick Cancer Research and Development Center, Frederick, Maryland 21702-1201, USA 2GSF-Institute of Mammalian Genetics, D -85764 Neuherberg, Germany 3 Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut 06520-8114, USA Received: 9 September 1997 / Accepted: 7 November 1997 ,122 Mutations at the microphthalmia, locus (Mitf) affect the develop- mutation, Mitf`"` - e"" recovered in the offspring of a (102 x ment of several different cell types, including melanocytes, mast C3H)F 1 male exposed to 250 mg/kg ethylnitrosourea (ENU) and cells, osteoclasts, and pigmented epithelial cells of the eye. Many mated to untreated Tester-stock females. The original mutant was different Mitf mutations have been isolated over the years. These recovered in an animal derived from ENU-treated stem cell sper- mutations affect the phenotype to different extents and can be matogonia. Heterozygous carriers were identified by their reduced arranged in an allelic series (reviewed by Moore 1995). A pheno-
Mammalian Genome – Springer Journals
Published: Mar 21, 2009
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