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The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome
Alexandra Jimenez-Armijo1, Supawich Morkmued2, José Tomás Ahumada1
1Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS- UMR7104, Université de Strasbourg, Illkirch, France.
Scientific Reports
|January 3, 2024
Summary
Kohlschütter-Tönz syndrome (KTS) is a rare genetic disorder. A new mouse model with a ROGDI mutation mimics KTS symptoms, revealing defects in enamel formation and neurological function.
Area of Science:
- Genetics
- Developmental Biology
- Neurology
Background:
- Kohlschütter-Tönz syndrome (KTS) is a rare autosomal recessive disorder.
- KTS is characterized by intellectual disability, early-onset epilepsy, and amelogenesis imperfecta.
Purpose of the Study:
- To develop and characterize a novel mouse model for KTS.
- To investigate the functional role of ROGDI in KTS pathophysiology.
Main Methods:
- Generated a novel mouse model with a targeted deletion in the Rogdi gene (Rogdi-/-).
- Assessed neurological phenotypes including seizure susceptibility, locomotion, circadian activity, and memory.
- Analyzed enamel development using scanning electron microscopy and transcriptomic RNA sequencing.
Main Results:
- Rogdi-/- mice exhibited epilepsy susceptibility, hyperactivity, and memory deficits, mirroring KTS symptoms.
- Mutant mice displayed hypomineralized and hypomature enamel with downregulated enamel matrix proteins.
- Rogdi-/- teeth lacked cyclic dental acidification, linked to altered expression of V-ATPase complex components.
Conclusions:
- The Rogdi-/- mouse is a valuable model for studying KTS.
- ROGDI dysfunction disrupts enamel pH regulation, potentially explaining the combined dental and neurological defects in KTS.
