Minimal aberrant behavioral phenotypes of neuroligin‐3 R451C knockin mice

Autism Research - Tập 1 Số 3 - Trang 147-158 - 2008
Kathryn K. Chadman1, Shiaoching Gong2,3, María Luisa Scattoni4, Sarah E. Boltuck5, Shruti U. Gandhy5, Nathaniel Heintz2,3, Jacqueline N. Crawley5
1Laboratory of Behavioral Neuroscience, Intramural Research Program, National Institute of Mental Health, Bethesda, Maryland 20892-3730, USA.
2GENSAT Project, Rockefeller University, New York
3Laboratory of Molecular Biology, Howard Hughes Medical Institute, Chevy Chase, Maryland
4Behavioural Neuroscience Section, Istituto Superiore di Sanita', Rome, Italy
5Laboratory of Behavioral Neuroscience, Intramural Research Program, National Institute of Mental Health, Bethesda, Maryland

Tóm tắt

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

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Autism Research

Tập 1 Số 3

147-158

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