A new knockin mouse carrying the E364X patient mutation for CDKL5 deficiency disorder: neurological, behavioral and molecular profiling.

ABSTRACT: CDKL5 deficiency disorder (CDD) is a rare neurodevelopmental syndrome caused by mutations in the X-linked CDKL5 gene. Hundreds of pathogenic variants have been described, associated with a significant phenotypic heterogeneity observed among patients. To date, different knockout mouse models have been generated. Here we present a new knockin CDKL5 mouse model carrying a humanized, well-characterized nonsense variant (c.1090G > T; p.E364X) described in the C-terminal domain of the CDKL5 protein in a female patient with a milder phenotype. Both male and female Cdkl5 ^E364X mice were analyzed. The novel Cdkl5 ^E364X mouse showed altered neurological and motor neuron maturation, hyperactivity, defective coordination and impaired memory and cognition. Gene expre

SUBMITTER: Quadalti C 

PROVIDER: S-EPMC11584566 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature