Brain transcriptome analysis of Slc6a20a heterozygous and homozygous mutant mice

SLC6A20A is a proline and glycine transporter known to regulate glycine homeostasis and NMDA receptor (NMDAR) function in the brain. A previous study on Slc6a20a-haploinsufficient mice reported increases in ambient glycine levels and NMDA receptor-mediated synaptic transmission in the brain, but whether Slc6a20a deficiency leads to disease-related behavioral deficits in mice remains unknown. Here, we report that Slc6a20a heterozygous and homozygous mutant mice display gene dosage-dependent behavioral phenotypes in locomotor, repetitive behavioral, and fear memory domains. In addition, Slc6a20a heterozygous and homozygous mutant brains showed transcriptomic changes in synapse, ribosome, and mitochondria-related genes as well as autism, epilepsy, and neuron-related genes. These results suggest that Slc6a20a deletion leads to gene dosage-dependent behavioral deficits in mice and transcriptomic changes in genes associated with synapse, ribosome, mitochondria, ASD, epilepsy, and neurons Overall design: Whole-brain transcriptome analysis of Slc6a20a heterozygous and homozygous mutant mice age of P120