Article
Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny.
Human molecular genetics - 27 Mar 2020
Gilet Johan G, Ivanova Ekaterina L, Trofimova Daria, Rudolf Gabrielle, Meziane Hamid, Broix Loic, Drouot Nathalie, Courraud Jeremie, Skory Valerie, Voulleminot Paul, Osipenko Maria, Bahi-Buisson Nadia, Yalcin Binnaz, Birling Marie-Christine, Hinckelmann Maria-Victoria, Kwok Benjamin H, Allingham John S, Chelly Jamel
Abstract excerpt
By using the Cre-mediated genetic switch technology, we were able to successfully generate a conditional knock-in mouse, bearing the KIF2A p.His321Asp missense point variant, identified in a subject with malformations of cortical development. These mice present with neuroanatomical anomalies and microcephaly associated with behavioral deficiencies and susceptibility to epilepsy, correlating with the described...
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