Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Mitfmi-Mhdabcc2
Name:	melanogenesis associated transcription factor; microphthalmia Martin Hrabe de Angelis bright coat color 2
MGI ID:	MGI:3040390
Synonyms:	BCC2, Gsfbcc2, Mitfmi-bcc2
Gene:	Mitf  Location: Chr6:97784013-97998310 bp, + strand  Genetic Position: Chr6, 45.05 cM
Alliance:	Mitfmi-Mhdabcc2 page

Strain of Origin:

C3HeB/FeJ

Allele Type:    Chemically induced (ENU) Mutation:    Single point mutation   Mutation details: An A to G transition at position 755 resulted in a His209Arg substitution in the basic domain of the protein, important for DNA-E box binding. The mutant protein was not able to bind to E-box DNA as was shown by gel shift analysis. (J:89276) Inheritance:    Semidominant

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

In Structures Affected by this Mutation:

5 anatomical structure(s)

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:	72 strains or lines available

Original:	J:89276 Hansdottir AG, et al., The novel mouse microphthalmia mutations Mitfmi-enu5 and Mitfmi-bcc2 produce dominant negative Mitf proteins. Genomics. 2004 May;83(5):932-5
All:	1 reference(s)