Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice.

摘要: Neuroligin-3 is a member of the class cell adhesion proteins that mediate synapse development and have been implicated in autism. Mice with human R451C mutation (NL3), identical to point found two brothers autism spectrum disorders, were generated phenotyped multiple behavioral assays face validity diagnostic symptoms No differences between NL3 their wildtype (WT) littermate controls detected on measures juvenile reciprocal social interaction, adult approach, cognitive abilities, resistance change spatial habit, findings which replicated several cohorts males females. Physical procedural abilities similar across genotypes general health, sensory sensorimotor gating, motor functions, anxiety-related traits. Minor developmental WT, including slightly different rates somatic growth, slower righting reflexes at postnatal days 2-6, faster homing females, less vocalizations day 8 males. Significant adults included somewhat longer latencies fall from rotarod, vertical activity open field, acoustic startle high decibel tones. The humanized mice did not result apparent autism-like phenotypes, but produced detectable functional consequences may be interpreted terms physical and/or reduced sensitivity stimuli.