International Mammalian Genome Society

The 16th International Mouse Genome Conference (2002)


POSTER 40 - A MUTATION IN NKX INTERACTING PROTEIN 1 RESULTS IN ABNORMAL HEART AND SKIN DEVELOPMENT AND DILATED CARDIOMYOPATHY IN WA3 MICE

BJ Herron
Wadsworth Center

1) Rao C, 2) Lien E, 2) Lu J, 2) Richardson J, 3) Semsarian C, 4) Millar S, 5) Stubbs L, 3) Siedman C, 3) Olson E, 1) Beier DR
1) Brigham and Womans Hospital, 2) UT Southwestern, 3) Harvard Medical School, 4) University of Pennsylvania, 5) Joint Genome Institute

We have identified a novel recessive mutation in mice that causes abnormalities of the heart and skin. We have named this mutation waved 3 because affected mice have open eyelids at birth and a curled coat.  The cardiac defects result in a progressive and ultimately lethal dilated cardiomyopathy. We have identified the mutated gene as a member of a family whose homologues are thought to play a role in the regulation of transcription factors. Using an independent approach, we discovered the same gene as an interaction factor for Nkx2-5, and we have demonstrated that this interaction is specific. Together these results suggest that this gene, which we call NKX interacting protein 1, is essential for normal development of heart and skin in mammals.


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