Developmental deficits, synapse and dendritic abnormalities in a Clcn4 KO autism mice model: endophenotypic target for ASD.

ABSTRACT: Autism spectrum disorder (ASD) is linked to ion channel dysfunction, including chloride voltage-gated channel-4 (CLCN4). We generated Clcn4 knockout (KO) mice by deleting exon 5 of chromosome 7 in the C57BL/6 mice. Clcn4 KO exhibited reduced social interaction and increased repetitive behaviors assessed using three-chamber and marble burying tests. Surprisingly, these symptoms were improved by Risperidone treatment, a drug commonly used to treat ASD. RNA sequencing data from mouse neural progenitor cells (mNPCs) showed that the genes regulating trans-synaptic signaling, transmembrane transport, and neuronal projection development were significantly decreased in Clcn4 knockdown (KD) cells compared to wild type (WT). Moreover, Risperidone treatment increased the genes related to the ion tran

SUBMITTER: Lee SM 

PROVIDER: S-EPMC11762770 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature