Chadman_2008_Autism.Res_1_147

Reference

Title : Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice - Chadman_2008_Autism.Res_1_147
Author(s) : Chadman KK , Gong S , Scattoni ML , Boltuck SE , Gandhy SU , Heintz N , Crawley JN
Ref : Autism Res , 1 :147 , 2008
Abstract :

Neuroligin-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.

PubMedSearch : Chadman_2008_Autism.Res_1_147
PubMedID: 19360662
Gene_locus related to this paper: mouse-3neur

Related information

Mutation R451C_mouse-3neur
Gene_locus mouse-3neur

Citations formats

Chadman KK, Gong S, Scattoni ML, Boltuck SE, Gandhy SU, Heintz N, Crawley JN (2008)
Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice
Autism Res 1 :147

Chadman KK, Gong S, Scattoni ML, Boltuck SE, Gandhy SU, Heintz N, Crawley JN (2008)
Autism Res 1 :147