Mice homozygous for the vitiligo spontaneous mutation Mitfmi-vit are only mildly affected in eye size, pigmentation, and the capacity for secondary bone resorption compared to other Mitf alleles. Homozygous mutant mice have a lighter initial coat color than normal with extensive white spotting with eventual hair cycles resembling human vitiligo. Homozygotes exhibit uneven pigmentation of the retina and slow, progressive photoreceptor cell loss, eventually leading to blindness.Read More +
Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the vitiligo spontaneous mutation Mitfmi-vit are only mildly affected compared to other Mitf alleles. Homozygous mutant mice have a lighter initial coat color than normal with extensive white spotting. After eight weeks of age, the mice producing increasing numbers of white hairs with each hair cycles resembling human vitiligo. Homozygotes exhibit uneven pigmentation of the retina and slow, progressive photoreceptor cell loss, eventually leading to blindness.
This spontaneous recessive mutant occurred on C57BL/6J, and consists of a G to A transition at bp 793 that leads to an aspartate to asparagine substitution at the corresponding amino acid (222) in the encoded protein. This mutation is in the helix 1 region of the protein.
|Allele Synonym(s)||Mitfmi-vitiligo; vit|
|Gene Symbol and Name||Mitf, melanogenesis associated transcription factor|
|Strain of Origin||C57BL/6J|
|General Note||Mitfmi-vit homozygotes show a slow progressive loss of photoreceptor cells, cosegregating with the gradual depigmentation (J:28910). Details of the degenerative process have been studied extensively (J:25135).|
|Molecular Note||G-to-A transition that leads to an aspartate to asparagine substitution at amino acid 222 (p.D222N) in the encoded protein. This mutation is in the helix 1 region of the protein.|
When using the C57BL/6J-Mitfmi-vit/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #002134 in your Materials and Methods section.
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