Primary Identifier | MGI:1856095 | Allele Type | Spontaneous |
Gene | Mitf | Inheritance Mode | Recessive |
Strain of Origin | C57BL/6J | Is Recombinase | false |
Is Wild Type | false |
description | 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). |
molecularNote | 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. |