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Tabuchi, K, Blundell, J, Etherton, MR, Hammer, RE, Liu, X, Powell, CM and Südhof, TC (2007) A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice. Science 318:71-6


Autism spectrum disorders (ASDs) are characterized by impairments in social behaviors that are sometimes coupled to specialized cognitive abilities. A small percentage of ASD patients carry mutations in genes encoding neuroligins, which are postsynaptic cell-adhesion molecules. We introduced one of these mutations into mice: the Arg451-->Cys451 (R451C) substitution in neuroligin-3. R451C mutant mice showed impaired social interactions but enhanced spatial learning abilities. Unexpectedly, these behavioral changes were accompanied by an increase in inhibitory synaptic transmission with no apparent effect on excitatory synapses. Deletion of neuroligin-3, in contrast, did not cause such changes, indicating that the R451C substitution represents a gain-of-function mutation. These data suggest that increased inhibitory synaptic transmission may contribute to human ASDs and that the R451C knockin mice may be a useful model for studying autism-related behaviors.


PubMed PMC3235367 Online version:10.1126/science.1146221


Amino Acid Substitution; Animals; Autistic Disorder/genetics; Brain/anatomy & histology; Brain/metabolism; Brain/physiology; Cell Adhesion Molecules, Neuronal; Disease Models, Animal; Female; Gene Targeting; Hippocampus/physiology; Humans; Male; Maze Learning; Membrane Proteins/genetics; Membrane Proteins/metabolism; Memory; Mice; Mice, Knockout; Mutation; Nerve Tissue Proteins/genetics; Nerve Tissue Proteins/metabolism; Social Behavior; Somatosensory Cortex/physiology; Synapses/physiology; Synaptic Transmission; Vesicular Glutamate Transport Protein 1/metabolism; Vesicular Inhibitory Amino Acid Transport Proteins/metabolism



Gene product Qualifier GO ID GO term name Evidence Code with/from Aspect Notes Status

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