Neuroanatomical Phenotypes Are Consistent With Autism-Like Behavioral Phenotypes in the 15q11-13 Duplication Mouse Model

Autism Research : Official Journal of the International Society for Autism Research
Jacob EllegoodJason Lerch

Abstract

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.

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Citations

Jul 30, 2015·Neurobiology of Learning and Memory·E PasciutoC Bagni
Jun 4, 2015·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Jacob Ellegood, Jacqueline N Crawley
Mar 21, 2017·Psychiatry and Clinical Neurosciences·Jun NomuraToru Takumi
Apr 4, 2017·Genes to Cells : Devoted to Molecular & Cellular Mechanisms·Keiko KishimotoToru Takumi
Nov 6, 2018·Nature Reviews. Genetics·Mathieu Quesnel-VallièresBenjamin J Blencowe
Jun 7, 2017·Acta Neuropathologica·Merina VarghesePatrick R Hof
Dec 21, 2018·Frontiers in Molecular Neuroscience·Naman Vatsa, Nihar Ranjan Jana

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