Characterization of a novel mouse model for CHD2-related neurodevelopmental disorder
Anat Mavashov Arzuan, Shaked Turk, Marina Brusel, Shir Quinn, Yael Sarusi, Igor Ulitsky, Moran Rubinstein · FENS Forum 2024
Mutations in dozens of chromatin regulators have been implicated in neurodevelopmental disorders. One of these genes is chromodomain helicase DNA binding 2 (CHD2), encoding for a chromatin modifier with largely unknown neuronal functions. In humans, heterozygous loss of function mutations in CHD2 are associated with severe childhood-onset epilepsy, global developmental delay, intellectual disability, and autistic-like features. Here, we characterized the epileptic and behavioral phenotypes of a mouse model with Chd2 haploinsufficiency (Chd2+/m and Chd2m/m mice). Interestingly, we discovered th
ePoster · Neuroscience