Mitf^mi-Mhdabcc2
Chemically induced Allele Detail

Summary

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

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• 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

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

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: 74 strains or lines available

References

• 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)