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. 2017 Nov 1;6:e29510. doi: 10.7554/eLife.29510

Table 1. Mitf alleles used in this study.

The effect on gene expression as well as the organismal phenotype associated with each allele is shown. All mutants are on C57Bl/6J background.

Phenotype
Allele Symbol Mode of induction Lesion Effect Heterozygote Homozygote
micropthalmia Mitfmi X-irradiation 3 bp deletion in basic domain Affects Mitf DNA binding affinity Iris pigment less
than in wild type; spots on
belly, head and tail
White coat, eyes small and red; deficiency of mast cells, basophils,
and natural killer cells; spinal ganglia, adrenal medulla,
and dermis smaller than normal; incisors fail to erupt, osteopetrosis; inner ear defects
White MitfMi-wh Spontaneous or X-irradiation I212N Affects Mitf DNA binding affinity Coat color lighter than dilute (d/d); eyes dark ruby;
spots on feet, tail and belly;
inner ear defects
White coat; eyes small and slightly pigmented;
spinal ganglia, adrenal medulla, and dermis smaller than normal;
inner ear defects; reduced fertility
VGA-9 Mitfmi-vga9 Transgene insertion Transgene insertion and 882 bp deletion Loss-of-function Normal White coat, eyes red and small;
inner ear defects
enu-22(398) Mitfmi-enu22(398) Ethylnitroso-urea C205T, Q26STOP in exon 2A, Affects splicing Normal Normal eyes,
white belly and large
unpigmented spots in coat

This table was modified from Steingrimsson et al. (2004). Information for the allele enu-22(398) comes from Bauer et al. (2009).