Article
The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome.
Scientific reports - 3 Jan 2024
Jimenez-Armijo Alexandra, Morkmued Supawich, Ahumada José Tomás, Kharouf Naji, de Feraudy Yvan, Gogl Gergo, Riet Fabrice, Niederreither Karen, Laporte Jocelyn, Birling Marie Christine, Selloum Mohammed, Herault Yann, Hernandez Magali, Bloch-Zupan Agnès
Abstract excerpt
Kohlschütter-Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by severe intellectual disability, early-onset epileptic seizures, and amelogenesis imperfecta. Here, we present a novel Rogdi mutant mouse deleting exons 6-11- a mutation found in KTS patients disabling ROGDI function. This Rogdi-/- mutant model recapitulates most KTS symptoms. Mutants displayed pentylenetetrazol-induced...
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