. 2002 Apr 2;99(7):4477–4482. doi: 10.1073/pnas.072071099

Table 2.

Mitf alleles used in this study

Allele symbol	Phenotype		Molecular defect
Allele symbol	Heterozygote	Homozygote	Molecular defect
Mitf^mi	Iris pigment less than in wild type; occasional spots on belly, head, or tail	White coat; microphthalmia; incisors fail to erupt; osteopetrosis	Deletion of R216; basic domain
Mitf^Mi-or	Slight dilution of coat color; pale ears and tail; belly streak or head spot	White coat; microphthalmia; incisors fail to erupt; osteopetrosis	R216K; basic domain
Mitf^Mi-wh	Dilute coat color; eyes dark ruby; white spots on feet, tail, and belly	White coat; eyes small and slightly pigmented	I212N; basic domain
Mitf^mi-ew	Normal	White coat; microphthalmia; hyperosteosis	25 amino acid deletion; basic domain
Mitf^mi-vga9	Normal	White coat; microphthalmia	Insertion and deletion; regulatory