Abstract

The present dataset file contains data about the characterization of a novel humanized CDKL5 mouse model carrying the E364X patient-derived pathogenic variant. The novelty of our mouse model when compared to the other CDD mouse models described in literature, is that our Cdkl5E364X model is humanized, carrying the human-specific Cdkl5 human sequence in the surroundings of the mutation of interest. The model has been generated through CRISPR/Cas9 system to characterize the E364X pathogenic variant and to be tested for suitability as platform for potential gene therapy testing. The model has been characterized from a neurological, behavioural and molecular profiling points of view, showing an altered neurological maturation, defective coordination and impaired learning and memory. Molecular profiling highlighted an unexpected reduction of Cdkl5 transcript in brain tissue of CDD mice, and suggested a strong involvement of cerebellum and hippocampus in the onset of the mutation-associated symptomatology in our mouse model. Further analysis showed an altered expression of Gabra1 and Gabra5. The dataset contains all the characterization data comprising the behavioural tests raw data and the PCR array and qPCR full expression data.