Mouse Model of Chromosome 15q13.3 Microdeletion Syndrome Demonstrates Features Related to Autism Spectrum Disorder
Open accessAbstract
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. SIGNIFICANCE STATEMENT 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.
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In D/+ mice, no gross differences were observed, although neuron number and dendritic morphology were not quantified.
“Although neuron number and dendritic morphology were not quantified in the D/+ mice, no gross differences were observed [204].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [204]
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- Authors
- Kogan, J. H., Gross, A. K., Featherstone, R. E., Shin, R., Chen, Q., Heusner, C. L., Adachi, M., Lin, A., Walton, N. M., Miyoshi, S., Miyake, S., Tajinda, K., Ito, H., Siegel, S. J., & Matsumoto, M.
- Affiliations
- University of Pennsylvania (US)
- Astellas Pharma (Japan) (JP)
- ORCID
- Venue
- The Journal of Neuroscience
- Publisher
- Society for Neuroscience
- Published
- 2015-12-09
- Volume
- 35
- Issue
- 49
- Pages
- 16282-16294
- ISSN
- 0270-6474 (ISSN-L)
- 1529-2401
- PMC
- PMC6605504
- OpenAlex
- W2272305265
- Cited by
- 59
- References
- 68
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 4 · 2023: 3 · 2022: 12 · 2021: 3 · 2020: 5 · 2019: 4 · 2018: 7 · 2017: 9 · 2016: 6
- FWCI
- 5.02
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Neuroscience (publishedVersion, cc-by-nc-sa)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Astellas Pharma
- National Institute of Mental Health (P50MH096891)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- autism spectrum disorder, copy number variation, mouse model, heterozygous deletion, macrocephaly, social interaction deficits, ultrasonic vocalizations, gamma-band EEG, event-related potentials, neurodevelopmental disorders, epilepsy, intellectual disability, schizophrenia
- MeSH terms
- Autism Spectrum Disorder, Animals, Anxiety, Association Learning, Brain, Chromosome Deletion, Chromosomes, Human, Pair 15, Discrimination, Psychological, Evoked Potentials, Female, Grooming, Humans, Interpersonal Relations, Male, Memory, Intellectual Disability, Mice, Inbred C57BL, Mice, Transgenic, Pilocarpine, Seizures, Smell, Vocalization, Animal, Gene Expression, Chromosome Disorders, Mice
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