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MitfMi-wh
Spontaneous Allele Detail
Summary
Symbol: MitfMi-wh
Name: melanogenesis associated transcription factor; white
MGI ID: MGI:1856088
Synonyms: mitfwh, Miwh
Gene: Mitf  Location: Chr6:97784013-97998310 bp, + strand  Genetic Position: Chr6, 45.05 cM
Alliance: MitfMi-wh page
MitfMi-wh/+ and MitfMi-wh/MitfMi-wh and control

Show the 4 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  (C57BL x DBA)F1
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsT-to-A transversion at bp 764, which leads to an isoleucine to asparagine substitution at amino acid 212 in the encoded protein (p.I212N). This mutation is in the basic region of the protein. (J:19656, J:21366)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 9 assay results
In Structures Affected by this Mutation: 21 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 8 strains available      Cell Lines: 0 lines available
Carrying any Mitf Mutation:  72 strains or lines available
Notes
Combination heterozygotes of MitfMi-wh/MitfMi, MitfMi-wh/MitfMi-b, and MitfMi-wh/MitfMi-ws show some interallelic complementation in that the heterozygote of the two alleles is more nearly normal than either homozygote (J:12967, J:19656). MitfMi-b/MitfMi-wh agouti mice are light cream with white spots and ruby eyes (J:15061).
References
Original:  J:13058 Grobman AB, et al., Mutant white mice. A new dominant autosomal mutant affecting coat color in Mus musculus. J Hered. 1947;38:381-384
All:  41 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
03/19/2024
MGI 6.23
The Jackson Laboratory