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A NOVEL CDKL5 DEFICIENCY DISORDER MOUSE MODEL: CDKL5 R550X KNOCK-IN MOUSE MODEL
Xiaoman Yangand 1 co-author
The Chinese University of Hong Kong
FENS Forum 2026 (2026)
Barcelona, Spain
Board PS04-08PM-553
Presentation
Date TBA
Board: PS04-08PM-553
Event Information
Poster Board
PS04-08PM-553
Poster
View posterAbstract
CDKL5 deficiency disorder (CDD) is a neurodevelopmental disorder caused by mutations in the CDKL5 gene, leading to early-onset epilepsy, motor deficits, cognitive impairments, and visual cortical damage. Over 250 mutations in CDKL5 gene have been identified, including the nonsense point mutation CDKL5 R550X, which introduces a premature stop codon and truncates the protein. This study aimed to characterize the CDKL5 R550X mutation and its effects using a knock-in mouse model. Methods: We generated a CDKL5 R550X mutant knock-in mouse model and assessed its behavioral and neurobiological phenotypes. Behavioral tests were conducted to evaluate motor function, cognition, and autistic-like features. Additionally, in vivo two-photon imaging was employed to examine visual cortical defects. Further investigation focused on dendritic spine morphology in cortical visual neurons. Results: The CDKL5 R550X mouse model exhibited significant motor deficits, cognitive impairments, and autistic-like behaviors, recapitulating key features of CDD. Visual cortical defects were observed, consistent with clinical findings in patients. At the cellular level, cortical visual neurons showed reduced dendritic spine density and a lower proportion of mature spines, suggesting impaired synaptic connectivity. Conclusions: Our findings demonstrate that the CDKL5 R550X mutation leads to CDD-like phenotypes in mice, including neurodevelopmental and visual cortical impairments. The CDKL5 R550X knock-in mouse serves as a novel and relevant model for investigating the mechanisms underlying CDKL5 deficiency disorder.
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