Publications

Latest publication 01/10/2020

Conditional switching of KIF2A mutation provides new insights into cortical malf

By using the Cre-mediated genetic switch technology, we were able to successfully generate a conditional knock-in mouse, bearing the KIF2A...

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    [title] => Conditional switching of KIF2A mutation provides new insights into cortical malf
    [paragraph] => Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny
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Authors
JG Gilet, EL Ivanova, D Trofimova et al

 Lab
Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France,
Journal
Human Molecular Genetics
Abstract
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 human phenotype. Using the flexibility of this model, we investigated RosaCre-, NestinCre- and NexCre-driven expression of the mutation to dissect the pathophysiological mechanisms underlying neurodevelopmental cortical abnormalities. We show that the expression of the p.His321Asp pathogenic variant increases apoptosis and causes abnormal multipolar to bipolar transition in newborn neurons, providing therefore insights to better understand cortical organization and brain growth defects that characterize KIF2A-related human disorders. We further demonstrate that the observed cellular phenotypes are likely to be linked to deficiency in the microtubule depolymerizing function of KIF2A.
BIOSEB Instruments Used
Aron Test or Four Plates Test (LE830),Grip strength test (BIO-GS3),Rotarod (BX-ROD)
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The Aron test allows a quick characterization of putative anxiolytics compounds in naïve animals. A must for studying anxiety, drug screening and phenotyping.
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New features GS4 - 2023: Color display with permanent backlight screen for easier reading, reset by footswitch, Improved battery time, Larger data memory of 500 values, Animal counter, USB port (charging/data transfer)

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