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Paternally and maternally inherited deletions and duplications of human chromosome 15q11-13 are relatively common in the human population. Furthermore, duplications in the 15q region are often associated with autism. Both maternal and paternal interstitial 15q11-13 duplication mouse models have been previously created, where several behavioral differences were found in the paternal duplication (patDp/+) mouse but not in the maternal duplication (matDp/+). These included decreased sociability, behavioral inflexibility, abnormal ultrasonic vocalizations, decreased spontaneous activity, and increased anxiety. Similarly, in the current study, we found several anatomical differences in the patDp/+ mice that were not seen in the matDp/+ mice. Regional differences that are evident only in the paternal duplication are a smaller dentate gyrus and smaller medial striatum. These differences may be responsible for the behavioral inflexibility. Furthermore, a smaller dorsal raphe nucleus could be responsible for the reported serotonin defects. This study highlights consistency that can be found between behavioral and anatomical phenotyping.

Original publication

DOI

10.1002/aur.1469

Type

Journal article

Journal

Autism Res

Publication Date

10/2015

Volume

8

Pages

545 - 555

Keywords

15q11-13 duplication, animal models, copy number variation; molecular genetics, neuroanatomy, structural MRI, Animals, Autistic Disorder, Brain, Chromosomes, Human, Pair 15, Disease Models, Animal, Humans, Magnetic Resonance Imaging, Mice, Phenotype