Mitf^mi-vit
Spontaneous Allele Detail

Summary

• Symbol: Mitf^mi-vit
• Name: melanogenesis associated transcription factor; vitiligo
• MGI ID: MGI:1856095
• Synonyms: Mitf^mi-vitiligo, vit
• Gene: Mitf Location: Chr6:97784013-97998310 bp, + strand Genetic Position: Chr6, 45.05 cM
• Alliance: Mitf^mi-vit page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: 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. (J:21366)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	27 assay results
In Structures Affected by this Mutation:	8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Mitf Mutation: 72 strains or lines available

Notes

Mitf^mi-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).

References

• Original: J:14091 Lerner AB, Vitiligo (vit). Mouse News Lett. 1986;74:125
• All: 38 reference(s)