Mitf<Mi-wh> Spontaneous Allele Detail MGI Mouse (MGI:1856088)

Mitf^Mi-wh
Spontaneous Allele Detail

Summary

Symbol:	Mitf^Mi-wh
Name:	melanogenesis associated transcription factor; white
MGI ID:	MGI:1856088
Synonyms:	mitf^wh, Mi^wh
Gene:	Mitf Location: Chr6:97784013-97998310 bp, + strand Genetic Position: Chr6, 45.05 cM
Alliance:	Mitf^Mi-wh page

Mitf^Mi-wh/+ and Mitf^Mi-wh/Mitf^Mi-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 details: T-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

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Mice Carrying this Mutation:	9 assay results
In Structures Affected by this Mutation:	20 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:	74 strains or lines available

Notes

Combination heterozygotes of Mitf^Mi-wh/Mitf^Mi, Mitf^Mi-wh/Mitf^Mi-b, and Mitf^Mi-wh/Mitf^Mi-ws show some interallelic complementation in that the heterozygote of the two alleles is more nearly normal than either homozygote (J:12967, J:19656). Mitf^Mi-b/Mitf^Mi-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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24