Regulation of mast cell phenotype by MITF

The development of mast cells is controlled through the cooperative effects of growth factors and nuclear transcription factors. The signals generated by the binding of stem cell factor (SCF) to c-kit receptor tyrosine kinase (KIT) are essential for their development and survival. A double gene dose of mutant alleles at either the SCF or KIT locus results in a decrease of mast cells. A double gene dose of mutant alleles at the mi transcription factor (MITF) locus also results in mast cell deficiency. Although the phenotype of the few mast cells remaining in SCF and KIT mutant mice appeared to be normal, the phenotype of mast cells was abnormal in MITF mutant mice. We describe here the abnormalities of mast cells observed in MITF mutant mice.