期刊
HUMAN MOLECULAR GENETICS
卷 21, 期 14, 页码 3083-3096出版社
OXFORD UNIV PRESS
DOI: 10.1093/hmg/dds124
关键词
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资金
- National Institute of Neurological Disorders and Stroke
- National Institutes of Health [R01 NS058529]
- SMS Foundation
- BCM IDDRC from the Eunice Kennedy Shriver National Institute of Child Health and Human Development [5P30HD024064-23]
- Institutional Program Unifying Population and Laboratory Based Sciences Award from the Burroughs Wellcome Fund
PotockiLupski 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 approximate to 7090 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.
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