| First Author | Lacaria M | Year | 2012 |
| Journal | Hum Mol Genet | Volume | 21 |
| Issue | 14 | Pages | 3083-96 |
| PubMed ID | 22492990 | Mgi Jnum | J:185284 |
| Mgi Id | MGI:5428068 | Doi | 10.1093/hmg/dds124 |
| Citation | Lacaria M, et al. (2012) Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits. Hum Mol Genet 21(14):3083-96 |
| abstractText | Potocki-Lupski syndrome (PTLS; MIM #610883), characterized by neurobehavioral abnormalities, intellectual disability and congenital anomalies, is caused by a 3.7-Mb duplication in 17p11.2. Neurobehavioral studies determined that approximately 70-90% of PTLS subjects tested positive for autism or autism spectrum disorder (ASD). We previously chromosomally engineered a mouse model for PTLS (Dp(11)17/+) with a duplication of a 2-Mb genomic interval syntenic to the PTLS region and identified consistent behavioral abnormalities in this mouse model. We now report extensive phenotyping with behavioral assays established to evaluate core and associated autistic-like traits, including tests for social abnormalities, ultrasonic vocalizations, perseverative and stereotypic behaviors, anxiety, learning and memory deficits and motor defects. Alterations were identified in both core and associated ASD-like traits. Rearing this animal model in an enriched environment mitigated some, and even rescued selected, neurobehavioral abnormalities, suggesting a role for gene-environment interactions in the determination of copy number variation-mediated autism severity. |
