Article
The novel mouse microphthalmia mutations Mitfmi-enu5 and Mitfmi-bcc2 produce dominant negative Mitf proteins.
Genomics - 1 May 2004
Hansdottir Adalheidur Gígja, Pálsdóttir Karen, Favor John, Neuhäuser-Klaus Angelika, Fuchs Helmut, de Angelis Martin Hrabé, Steingrímsson Eiríkur
Abstract excerpt
Mutations in the microphthalmia-associated transcription factor (Mitf) gene affect the development of different cell types, including melanocytes, osteoclasts, and retinal pigmented epithelial cells of the eye. Many different mutations at the locus are known and since they affect the phenotype to different extents they form an allelic series. The Mitf protein is a member of the Mitf-Tfe subfamily of basic...
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