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).