{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1361981471183448704.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1523/jneurosci.3967-14.2015"}},{"identifier":{"@type":"URI","@value":"https://syndication.highwire.org/content/doi/10.1523/JNEUROSCI.3967-14.2015"}},{"identifier":{"@type":"PMID","@value":"26658876"}}],"dc:title":[{"@value":"Mouse Model of Chromosome 15q13.3 Microdeletion Syndrome Demonstrates Features Related to Autism Spectrum Disorder"}],"description":[{"type":"abstract","notation":[{"@value":"<jats:p>The chromosome 15q13.3 microdeletion is a pathogenic copy number variation conferring epilepsy, intellectual disability, schizophrenia, and autism spectrum disorder (ASD). We generated mice carrying a deletion of 1.2 Mb homologous to the 15q13.3 microdeletion in human patients. Here, we report that mice with a heterozygous deletion on a C57BL/6 background (D/+ mice) demonstrated phenotypes including enlarged/heavier brains (macrocephaly) with enlarged lateral ventricles, decreased social interactions, increased repetitive grooming behavior, reduced ultrasonic vocalizations, decreased auditory-evoked gamma band EEG, and reduced event-related potentials. D/+ mice had normal body weight, activity levels, sensory gating, and cognitive abilities and no signs of epilepsy/seizures. Our results demonstrate that D/+ mice represent ASD-related phenotypes associated with 15q13.3 microdeletion syndrome. Further investigations using this chromosome-engineered mouse model may uncover the common mechanism(s) underlying ASD and other neurodevelopmental/psychiatric disorders representing the 15q13.3 microdeletion syndrome, including epilepsy, intellectual disability, and schizophrenia.</jats:p><jats:p><jats:bold>SIGNIFICANCE STATEMENT</jats:bold>Recently discovered pathologic copy number variations (CNVs) from patients with neurodevelopmental/psychiatric disorders show very strong penetrance and thus are excellent candidates for mouse models of disease that can mirror the human genetic conditions with high fidelity. A 15q13.3 microdeletion in humans results in a range of neurodevelopmental/psychiatric disorders, including epilepsy, intellectual disability, schizophrenia, and autism spectrum disorder (ASD). The disorders conferred by a 15q13.3 microdeletion also have overlapping genetic architectures and comorbidity in other patient populations such as those with epilepsy and schizophrenia/psychosis, as well as schizophrenia and ASD. We generated mice carrying a deletion of 1.2 Mb homologous to the 15q13.3 microdeletion in human patients, which allowed us to investigate the potential causes of neurodevelopmental/psychiatric disorders associated with the CNV.</jats:p>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1380016866329021709","@type":"Researcher","foaf:name":[{"@value":"Jeffrey H. Kogan"}]},{"@id":"https://cir.nii.ac.jp/crid/1380016866329021710","@type":"Researcher","foaf:name":[{"@value":"Adam K. Gross"}]},{"@id":"https://cir.nii.ac.jp/crid/1380016866329021704","@type":"Researcher","foaf:name":[{"@value":"Robert E. Featherstone"}]},{"@id":"https://cir.nii.ac.jp/crid/1380016866329021696","@type":"Researcher","foaf:name":[{"@value":"Rick Shin"}]},{"@id":"https://cir.nii.ac.jp/crid/1380016866329021707","@type":"Researcher","foaf:name":[{"@value":"Qian Chen"}]},{"@id":"https://cir.nii.ac.jp/crid/1380016866329021697","@type":"Researcher","foaf:name":[{"@value":"Carrie L. Heusner"}]},{"@id":"https://cir.nii.ac.jp/crid/1380016866329021705","@type":"Researcher","foaf:name":[{"@value":"Megumi Adachi"}]},{"@id":"https://cir.nii.ac.jp/crid/1380016866329021702","@type":"Researcher","foaf:name":[{"@value":"Amy Lin"}]},{"@id":"https://cir.nii.ac.jp/crid/1380016866329021703","@type":"Researcher","foaf:name":[{"@value":"Noah M. Walton"}]},{"@id":"https://cir.nii.ac.jp/crid/1380016866329021706","@type":"Researcher","foaf:name":[{"@value":"Sosuke Miyoshi"}]},{"@id":"https://cir.nii.ac.jp/crid/1380016866329021700","@type":"Researcher","foaf:name":[{"@value":"Shinichi Miyake"}]},{"@id":"https://cir.nii.ac.jp/crid/1380016866329021699","@type":"Researcher","foaf:name":[{"@value":"Katsunori Tajinda"}]},{"@id":"https://cir.nii.ac.jp/crid/1380016866329021708","@type":"Researcher","foaf:name":[{"@value":"Hiroyuki Ito"}]},{"@id":"https://cir.nii.ac.jp/crid/1380016866329021698","@type":"Researcher","foaf:name":[{"@value":"Steven J. Siegel"}]},{"@id":"https://cir.nii.ac.jp/crid/1380016866329021701","@type":"Researcher","foaf:name":[{"@value":"Mitsuyuki Matsumoto"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"02706474"},{"@type":"EISSN","@value":"15292401"}],"prism:publicationName":[{"@value":"The Journal of Neuroscience"}],"dc:publisher":[{"@value":"Society for Neuroscience"}],"prism:publicationDate":"2015-12-09","prism:volume":"35","prism:number":"49","prism:startingPage":"16282","prism:endingPage":"16294"},"reviewed":"false","dcterms:accessRights":"http://purl.org/coar/access_right/c_abf2","dc:rights":["https://creativecommons.org/licenses/by-nc-sa/4.0/"],"url":[{"@id":"https://syndication.highwire.org/content/doi/10.1523/JNEUROSCI.3967-14.2015"}],"createdAt":"2015-12-11","modifiedAt":"2023-04-13","foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=Male","dc:title":"Male"},{"@id":"https://cir.nii.ac.jp/all?q=Autism%20Spectrum%20Disorder","dc:title":"Autism Spectrum Disorder"},{"@id":"https://cir.nii.ac.jp/all?q=Gene%20Expression","dc:title":"Gene Expression"},{"@id":"https://cir.nii.ac.jp/all?q=Chromosome%20Disorders","dc:title":"Chromosome Disorders"},{"@id":"https://cir.nii.ac.jp/all?q=Mice,%20Transgenic","dc:title":"Mice, Transgenic"},{"@id":"https://cir.nii.ac.jp/all?q=Anxiety","dc:title":"Anxiety"},{"@id":"https://cir.nii.ac.jp/all?q=Mice","dc:title":"Mice"},{"@id":"https://cir.nii.ac.jp/all?q=Discrimination,%20Psychological","dc:title":"Discrimination, Psychological"},{"@id":"https://cir.nii.ac.jp/all?q=Memory","dc:title":"Memory"},{"@id":"https://cir.nii.ac.jp/all?q=Seizures","dc:title":"Seizures"},{"@id":"https://cir.nii.ac.jp/all?q=Intellectual%20Disability","dc:title":"Intellectual Disability"},{"@id":"https://cir.nii.ac.jp/all?q=Animals","dc:title":"Animals"},{"@id":"https://cir.nii.ac.jp/all?q=Humans","dc:title":"Humans"},{"@id":"https://cir.nii.ac.jp/all?q=Interpersonal%20Relations","dc:title":"Interpersonal Relations"},{"@id":"https://cir.nii.ac.jp/all?q=Evoked%20Potentials","dc:title":"Evoked Potentials"},{"@id":"https://cir.nii.ac.jp/all?q=Chromosomes,%20Human,%20Pair%2015","dc:title":"Chromosomes, Human, Pair 15"},{"@id":"https://cir.nii.ac.jp/all?q=Pilocarpine","dc:title":"Pilocarpine"},{"@id":"https://cir.nii.ac.jp/all?q=Association%20Learning","dc:title":"Association Learning"},{"@id":"https://cir.nii.ac.jp/all?q=Brain","dc:title":"Brain"},{"@id":"https://cir.nii.ac.jp/all?q=Grooming","dc:title":"Grooming"},{"@id":"https://cir.nii.ac.jp/all?q=Mice,%20Inbred%20C57BL","dc:title":"Mice, Inbred C57BL"},{"@id":"https://cir.nii.ac.jp/all?q=Smell","dc:title":"Smell"},{"@id":"https://cir.nii.ac.jp/all?q=Female","dc:title":"Female"},{"@id":"https://cir.nii.ac.jp/all?q=Chromosome%20Deletion","dc:title":"Chromosome Deletion"},{"@id":"https://cir.nii.ac.jp/all?q=Vocalization,%20Animal","dc:title":"Vocalization, Animal"}],"relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1050022543170430976","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Neurodevelopmental impact of CNV models in ASD: Recent advances and future directions"}]},{"@id":"https://cir.nii.ac.jp/crid/1360002215876751360","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"CNV biology in neurodevelopmental disorders"}]},{"@id":"https://cir.nii.ac.jp/crid/1360004232389497728","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Characterizing vulnerable brain areas and circuits in mouse models of autism: Towards understanding pathogenesis and new therapeutic approaches"}]},{"@id":"https://cir.nii.ac.jp/crid/1360005517153043456","@type":"Article","resourceType":"学術雑誌論文(journal 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