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Mitfmi-vit
Spontaneous Allele Detail
Nomenclature
Symbol: Mitfmi-vit
Name: melanogenesis associated transcription factor; vitiligo
MGI ID: MGI:1856095
Synonyms: Mitfmi-vitiligo, vit
Gene: Mitf  Location: Chr6:97807052-98021349 bp, + strand  Genetic Position: Chr6, 45.05 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsG 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. (J:21366)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 27 assay results
In Structures Affected by this Mutation: 10 anatomical structures
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:  29 strains or lines available
Notes
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).
References
Original:  J:14091 Lerner AB, Vitiligo (vit). Mouse News Lett. 1986;74:125
All:  37 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/14/2020
MGI 6.14
The Jackson Laboratory