A patient derived missense mouse model of Kabuki syndrome 1
Sara Tholl Halldorsdottir, Meghna Vinod, Hilmar Orn Gunnlaugsson, Ellen Dagmar Björnsdóttir, Romain Maurice Jacques Lasseur, Teresa Romeo Luperchio, Jill A. Fahrner, Agnes Ulfig, Hans Tomas Bjornsson
The paper introduces a missense mouse model of Kabuki syndrome with intact KMT2D function, showing similar phenotypes to loss-of-function models but without altered adult neurogenesis and with novel kidney agenesis.
Disease Models & Mechanisms · Sep 9, 2026Peer-reviewedGenetics