Allele/Variant

Mitfmi-vit

Species
Mus musculus
Symbol
Mitfmi-vit
Category
allele
Allele of gene
Mitf
Transgenic Constructs
None
Synonyms
  • Mitfmi-vitiligo
  • vit
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations