Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome
Open accessAbstract
A deletion on human chromosome 16p11.2 is associated with autism spectrum disorders. We deleted the syntenic region on mouse chromosome 7F3. MRI and high-throughput single-cell transcriptomics revealed anatomical and cellular abnormalities, particularly in cortex and striatum of juvenile mutant mice (16p11(+/-)). We found elevated numbers of striatal medium spiny neurons (MSNs) expressing the dopamine D2 receptor (Drd2(+)) and fewer dopamine-sensitive (Drd1(+)) neurons in deep layers of cortex. Electrophysiological recordings of Drd2(+) MSN revealed synaptic defects, suggesting abnormal basal ganglia circuitry function in 16p11(+/-) mice. This is further supported by behavioral experiments showing hyperactivity, circling, and deficits in movement control. Strikingly, 16p11(+/-) mice showed a complete lack of habituation reminiscent of what is observed in some autistic individuals. Our findings unveil a fundamental role of genes affected by the 16p11.2 deletion in establishing the basal ganglia circuitry and provide insights in the pathophysiology of autism.
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The human 16p11.2 locus is a roughly 500-600 kb region containing 27-29 genes on the proximal short arm of chromosome 16.
“The human 16p11.2 gene locus (chromosome 16, position 11.2) is a ~500–600 kb region containing 27–29 genes [4–7] located on the proximal short arm of chromosome 16 [8].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [4]
All three lines of 16p11.2+/− mice display social deficits in various testing paradigms and an array of cognitive deficits.
“All 3 lines of 16p11.2+/− mice display social deficits in various testing paradigms [59–64], and an array of cognitive deficits [4, 59, 62–68].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [4]
Hyperlocomotion is broadly reported in 16p11.2+/− mice, another behavioral feature that does not coincide directly with human symptomology.
“Hyperlocomotion is also broadly reported in 16p11.2+/− mice [4, 5, 59, 61, 63, 64, 70], another behavioral feature that does not coincide directly with human symptomology.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [4]
Mild motor deficits are present in 16p11.2+/− models, consistent with human phenotypes.
“Mild motor deficits are also present in these models [4, 61, 68], consistent with human phenotypes.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [4]
16p11.2+/− models show reduced body size/weight, in contrast to the human obesity phenotype.
“However, 16p11.2+/− models show reduced body size/weight [4, 5, 60, 61, 63], in contrast to the human obesity phenotype.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [4]
Startle response and pre-pulse inhibition are severely impaired in the 16p11.2+/− mice (Dolmetsch).
“Startle response [4, 60] and pre-pulse inhibition (PPI) [60] are severely impaired in the 16p11.2+/− mice (Dolmetsch).”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [4]
Various structural abnormalities are reported in the striatum and cortex of 16p11.2+/− mice (Dolmetsch), along with an increased population of Drd2+ MSNs in the striatum and reduced Drd1+ neurons in the cortex.
“Various structural abnormalities are reported in the striatum and cortex of 16p11.2+/− mice (Dolmetsch), along with an increased population of Drd2+ MSNs in the striatum, and reduced Drd1+ neurons in the cortex [4].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [4]
An elevated number of MSNs and increased expression of Drd2 in striatum are found in male 16p11.2+/− mice (Mills).
“An elevated number of MSNs and the increased expression of Drd2 in striatum are found in male 16p11.2+/− mice (Mills) [4, 67].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [4]
Disrupted synaptic function in striatal MSNs is thought to underlie locomotion-related behavioral phenotypes in 16p11.2+/− mice.
“Disrupted synaptic function in striatal MSNs is thought to underlie locomotion-related behavioral phenotypes in 16p11.2+/− mice [4].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [4]
NAc medium spiny neurons in 16p11.2+/− mice (Dolmetsch) display increased AMPAR/NMDAR ratio and decreased paired pulse ratios, along with increased miniature EPSC frequency.
“Nucleus accumbens (NAc) medium spiny neurons (MSNs) in 16p11.2+/− mice (Dolmetsch) display increased AMPAR/NMDAR ratio and decreased paired pulse ratios (PPR), along with increased miniature EPSC frequency [4].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [4]
16p11.2 hemideletion mice have larger volumes in the hypothalamus, midbrain, cerebellar cortex, striatum, nucleus accumbens, and globus pallidus.
“Increased volumes of several brain areas, including the hypothalamus, midbrain, cerebellar cortex, striatum, nucleus accumbens and globus pallidus, are observed in 16p11.2+/− mice (Mills, Dolmetsch) [4, 5, 96]”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [4]
In the 16p11+/− mouse model, brain weight is comparable to controls, but relative volumes of the nucleus accumbens and globus pallidus are increased.
“In a third model (the 16p11+/− mice) brain weight is comparable to controls, although relative volumes of the nucleus accumbens and globus pallidus are increased.”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [289]
In 16p11+/− mice, the number of cells expressing dopamine receptor D2 is increased in the striatum, with no change in dendritic complexity or spine density, and fewer dopaminergic cells are found in cortical layers V and VI.
“The number of cells expressing dopamine receptor D2 is increased in the striatum, with no change in dendritic complexity or spine density, and fewer dopaminergic cells in cortical layers V and VI are found in these mice [289].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [289]
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Cites
Hierarchical Grouping to Optimize an Objective Function
Ward, J. H. (1963) · Journal of the American Statistical Association · doi:10.1080/01621459.1963.10500845 · Cited by 21,341 · see citing works
Thresholding of statistical maps in functional neuroimaging using the false discovery rate
Genovese, C. R., Lazar, N. A., & Nichols, T. (2002) · NeuroImage · doi:10.1006/nimg.2001.1037 · Cited by 4,923 · see citing works
A gene expression atlas of the central nervous system based on bacterial artificial chromosomes
Gong, S., Zheng, C., Doughty, M. L., Losos, K., Didkovsky, N., Schambra, U. B., Nowak, N. J., Joyner, A., Leblanc, G., Hatten, M. E., et al. (2003) · Nature · doi:10.1038/nature02033 · Cited by 2,108 · see citing works
Advances in autism genetics: on the threshold of a new neurobiology
Abrahams, B. S., & Geschwind, D. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2346 · Cited by 1,866 · see citing works
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666 · see citing works
Autism spectrum disorders: developmental disconnection syndromes
Geschwind, D. H., & Levitt, P. (2007) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2007.01.009 · Cited by 1,411 · see citing works
Social reward requires coordinated activity of nucleus accumbens oxytocin and serotonin
Dölen, G., Darvishzadeh, A., Huang, K. W., & Malenka, R. C. (2013) · Nature · doi:10.1038/nature12518 · Cited by 1,161 · see citing works
Self-citationNeuronal Subtype-Specific Genes that Control Corticospinal Motor Neuron Development In Vivo
Arlotta, P., Molyneaux, B. J., Chen, J., Inoue, J., Kominami, R., & Macklis, J. D. (2005) · Neuron · doi:10.1016/j.neuron.2004.12.036 · Cited by 1,157 · see citing works
Distinct roles for direct and indirect pathway striatal neurons in reinforcement
Kravitz, A. V., Tye, L. D., & Kreitzer, A. C. (2012) · Nature Neuroscience · doi:10.1038/nn.3100 · Cited by 972 · see citing works
Mammalian genes are transcribed with widely different bursting kinetics
Suter, D. M., Molina, N., Gatfield, D., Schneider, K., Schibler, U., & Naef, F. (2011) · Science · doi:10.1126/science.1198817 · Cited by 927 · see citing works
MicroRNA-mediated conversion of human fibroblasts to neurons
Yoo, A. S., Sun, A. X., Li, L., Shcheglovitov, A., Portmann, T., Li, Y., Lee-Messer, C., Dolmetsch, R. E., Tsien, R. W., & Crabtree, G. R. (2011) · Nature · doi:10.1038/nature10323 · Cited by 919 · see citing works
Self-citationPrevalence of autism-spectrum conditions: UK school-based population study
Baron-Cohen, S., Scott, F. J., Allison, C., Williams, J., Bolton, P., Matthews, F. E., & Brayne, C. (2009) · British Journal of Psychiatry · doi:10.1192/bjp.bp.108.059345 · Cited by 918 · see citing works
Mapping early brain development in autism
Courchesne, E., Pierce, K., Schumann, C. M., Redcay, E., Buckwalter, J. A., Kennedy, D. P., & Morgan, J. (2007) · Neuron · doi:10.1016/j.neuron.2007.10.016 · Cited by 860 · see citing works
Endocannabinoid-mediated rescue of striatal LTD and motor deficits in Parkinson's disease models
Kreitzer, A. C., & Malenka, R. C. (2007) · Nature · doi:10.1038/nature05506 · Cited by 735 · see citing works
Self-citationMicroduplications of 16p11.2 are associated with schizophrenia
Wellcome Trust Case Control Consortium, McCarthy, S. E., Makarov, V., Kirov, G., Addington, A. M., McClellan, J., Yoon, S., Perkins, D. O., Dickel, D. E., Kusenda, M., et al. (2009) · Nature Genetics · doi:10.1038/ng.474 · Cited by 711 · see citing works
Satb2 Regulates Callosal Projection Neuron Identity in the Developing Cerebral Cortex
Alcamo, E. A., Chirivella, L., Dautzenberg, M., Dobreva, G., Fariñas, I., Grosschedl, R., & McConnell, S. K. (2008) · Neuron · doi:10.1016/j.neuron.2007.12.012 · Cited by 658 · see citing works
Association Between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Sæmundsen, E., Stefánsson, H., Ferreira, M. A. R., Green, T. J., et al. (2008) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000316305.61461.6f · Cited by 647 · see citing works
Origin and Molecular Specification of Striatal Interneurons
Marín, Ó., Anderson, S. A., & Rubenstein, J. L. R. (2000) · Journal of Neuroscience · doi:10.1523/jneurosci.20-16-06063.2000 · Cited by 627 · see citing works
Fombonne, E. (2003) · JAMA · doi:10.1001/jama.289.1.87 · Cited by 604 · see citing works
Automated Three‐Chambered Social Approach Task for Mice
Yang, M., Silverman, J. L., & Crawley, J. N. (2011) · Current Protocols in Neuroscience · doi:10.1002/0471142301.ns0826s56 · Cited by 598 · see citing works
Self-citationUsing iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome
Paşca, S. P., Portmann, T., Voineagu, I., Yazawa, M., Shcheglovitov, A., Paşca, A. M., Cord, B., Palmer, T. D., Chikahisa, S., Nishino, S., et al. (2011) · Nature Medicine · doi:10.1038/nm.2576 · Cited by 585 · see citing works
Self-citationShinawi, M., Liu, P., Kang, S.-H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.073015 · Cited by 580 · see citing works
Searching for ways out of the autism maze: genetic, epigenetic and environmental clues
Persico, A. M., & Bourgeron, T. (2006) · Trends in Neurosciences · doi:10.1016/j.tins.2006.05.010 · Cited by 575 · see citing works
Simple Behavioral Assessment of Mouse Olfaction
Yang, M., & Crawley, J. N. (2009) · Current Protocols in Neuroscience · doi:10.1002/0471142301.ns0824s48 · Cited by 573 · see citing works
Self-citationGain control by layer six in cortical circuits of vision
Olsen, S. R., Bortone, D. S., Adesnik, H., & Scanziani, M. (2012) · Nature · doi:10.1038/nature10835 · Cited by 539 · see citing works
Is social attachment an addictive disorder?
Insel, T. R. (2003) · Physiology & Behavior · doi:10.1016/s0031-9384(03)00148-3 · Cited by 430 · see citing works
Quantitative morphology of the corpus callosum in attention deficit hyperactivity disorder
Giedd, J. N., Castellanos, F. X., Casey, B. J., Kozuch, P. L., King, A. C., Hamburger, S. D., & Rapoport, J. L. (1994) · American Journal of Psychiatry · doi:10.1176/ajp.151.5.665 · Cited by 422 · see citing works
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
Golzio, C., Willer, J., Talkowski, M. E., Oh, E. C., Taniguchi, Y., Jacquemont, S., Reymond, A., Sun, M., Sawa, A., Gusella, J. F., et al. (2012) · Nature · doi:10.1038/nature11091 · Cited by 410 · see citing works
Bengtsson, M., Ståhlberg, A., Rorsman, P., & Kubista, M. (2005) · Genome Research · doi:10.1101/gr.3820805 · Cited by 392 · see citing works
Yang, M., Bozdagi, O., Scattoni, M. L., Wöhr, M., Roullet, F. I., Katz, A. M., Abrams, D. N., Kalikhman, D., Simon, H., Woldeyohannes, L., et al. (2012) · The Journal of Neuroscience · doi:10.1523/jneurosci.6107-11.2012 · Cited by 369 · see citing works
Self-citationPostsynaptic TRPV1 triggers cell type–specific long-term depression in the nucleus accumbens
Grueter, B. A., Brasnjo, G., & Malenka, R. C. (2010) · Nature Neuroscience · doi:10.1038/nn.2685 · Cited by 353 · see citing works
Self-citationChen, B., Wang, S. S., Hattox, A. M., Rayburn, H., Nelson, S. B., & McConnell, S. K. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0804918105 · Cited by 336 · see citing works
Fernandez, B. A., Roberts, W., Chung, B., Weksberg, R., Meyn, S., Szatmari, P., Joseph-George, A. M., MacKay, S., Whitten, K., Noble, B., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.069369 · Cited by 335 · see citing works
Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism
Horev, G., Ellegood, J., Lerch, J. P., Son, Y.-E. E., Muthuswamy, L., Vogel, H., Krieger, A. M., Buja, A., Henkelman, R. M., Wigler, M., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1114042108 · Cited by 330 · see citing works
Self-citationArlotta, P., Molyneaux, B. J., Jabaudon, D., Yoshida, Y., & Macklis, J. D. (2008) · Journal of Neuroscience · doi:10.1523/jneurosci.2986-07.2008 · Cited by 324 · see citing works
SOX5 Controls the Sequential Generation of Distinct Corticofugal Neuron Subtypes
Lai, T. S., Jabaudon, D., Molyneaux, B. J., Azim, E., Arlotta, P., Menezes, J. R. L., & Macklis, J. D. (2008) · Neuron · doi:10.1016/j.neuron.2007.12.023 · Cited by 300 · see citing works
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Chadman, K. K., Gong, S., Scattoni, M. L., Boltuck, S. E., Gandhy, S. U., Heintz, N., & Crawley, J. N. (2008) · Autism Research · doi:10.1002/aur.22 · Cited by 292 · see citing works
Self-citationBijlsma, E. K., Gijsbers, A. C. J., Schuurs-Hoeijmakers, J. H. M., van Haeringen, A., Fransen van de Putte, D. E., Anderlid, B.-M., Lundin, J., Lapunzina, P., Pérez Jurado, L. A., Delle Chiaie, B., et al. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.03.006 · Cited by 282 · see citing works
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Molnár, Z., & Cheung, A. F. P. (2006) · Neuroscience Research · doi:10.1016/j.neures.2006.02.008 · Cited by 269 · see citing works
Update on models of basal ganglia function and dysfunction
DeLong, M. R., & Wichmann, T. (2009) · Parkinsonism & Related Disorders · doi:10.1016/s1353-8020(09)70822-3 · Cited by 231 · see citing works
Sociability and motor functions in Shank1 mutant mice
Silverman, J. L., Turner, S. M., Barkan, C. L., Tolu, S. S., Saxena, R., Hung, A. Y., Sheng, M., & Crawley, J. N. (2011) · Brain Research · doi:10.1016/j.brainres.2010.09.026 · Cited by 218 · see citing works
Self-citationMouse model of Timothy syndrome recapitulates triad of autistic traits
Bader, P. L., Faizi, M., Kim, L. H., Owen, S. F., Tadross, M. R., Alfa, R. W., Bett, G. C. L., Tsien, R. W., Rasmusson, R. L., & Shamloo, M. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1112667108 · Cited by 212 · see citing works
Self-citationWahlsten, D., Metten, P., & Crabbe, J. C. (2003) · Brain Research · doi:10.1016/s0006-8993(03)02354-0 · Cited by 206 · see citing works
Novel Subtype-Specific Genes Identify Distinct Subpopulations of Callosal Projection Neurons
Molyneaux, B. J., Arlotta, P., Fame, R. M., MacDonald, J. L., MacQuarrie, K. L., & Macklis, J. D. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.6108-08.2009 · Cited by 198 · see citing works
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Tang, S.-H. E., Silva, F. J., Tsark, W. M. K., & Mann, J. R. (2002) · genesis · doi:10.1002/gene.10030 · Cited by 173 · see citing works
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de Anda, F. C., Rosário, A. L., Durak, O., Tran, T. S., Gräff, J., Meletis, K., Rei, D., Soda, T., Madabhushi, R., Ginty, D. D., et al. (2012) · Nature Neuroscience · doi:10.1038/nn.3141 · Cited by 171 · see citing works
Autism-Relevant Social Abnormalities and Cognitive Deficits in Engrailed-2 Knockout Mice
Brielmaier, J. M., Matteson, P. G., Silverman, J. L., Senerth, J. M., Kelly, S., Genestine, M., Millonig, J. H., DiCicco-Bloom, E. M., & Crawley, J. N. (2012) · PLoS ONE · doi:10.1371/journal.pone.0040914 · Cited by 156 · see citing works
Self-citationOrigin and molecular specification of globus pallidus neurons
Nóbrega-Pereira, S., Gelman, D., Bartolini, G., Pla, R., Pierani, A., & Marín, O. (2010) · The Journal of Neuroscience · doi:10.1523/jneurosci.4023-09.2010 · Cited by 142 · see citing works
Ellegood, J., Babineau, B. A., Henkelman, R. M., Lerch, J. P., & Crawley, J. N. (2013) · NeuroImage · doi:10.1016/j.neuroimage.2012.12.029 · Cited by 135 · see citing works
Self-citationFaizi, M., Bader, P. L., Tun, C., Encarnacion, A., Kleschevnikov, A. M., Belichenko, P. V., Saw, N. L., Priestley, M., Tsien, R. W., Mobley, W. C., et al. (2011) · Neurobiology of Disease · doi:10.1016/j.nbd.2011.04.011 · Cited by 134 · see citing works
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Coutellier, L. D., Beraki, S., Ardestani, P. M., Saw, N. L., & Shamloo, M. (2012) · PLoS ONE · doi:10.1371/journal.pone.0046604 · Cited by 109 · see citing works
Self-citationDopamine Increases the Gain of the Input-Output Response of Rat Prefrontal Pyramidal Neurons
Thurley, K., Senn, W., & Lüscher, H. (2008) · Journal of Neurophysiology · doi:10.1152/jn.01098.2007 · Cited by 106 · see citing works
Seong, H. J., & Carter, A. G. (2012) · Journal of Neuroscience · doi:10.1523/jneurosci.1367-12.2012 · Cited by 100 · see citing works
Faizi, M., Bader, P. L., Saw, N. L., Nguyen, T. V., Beraki, S., Wyss‐Coray, T., Longo, F. M., & Shamloo, M. (2012) · Brain and Behavior · doi:10.1002/brb3.41 · Cited by 86 · see citing works
Self-citationEy, E., Yang, M., Katz, A. M., Woldeyohannes, L., Silverman, J. L., Leblond, C. S., Fauré, P., Torquet, N., Sourd, A. L., Bourgeron, T., et al. (2012) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2012.00849.x · Cited by 84 · see citing works
Self-citationResponse of neural reward regions to food cues in autism spectrum disorders
Cascio, C. J., Foss-Feig, J. H., Heacock, J. L., Newsom, C. R., Cowan, R. L., Benningfield, M. M., Rogers, B. P., & Cao, A. (2012) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-4-9 · Cited by 76 · see citing works
Developmental Trajectories of the Corpus Callosum in Attention-Deficit/Hyperactivity Disorder
Gilliam, M., Stockman, M., Malek, M., Sharp, W., Greenstein, D., Lalonde, F., Clasen, L., Giedd, J., Rapoport, J., & Shaw, P. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2010.11.024 · Cited by 56 · see citing works
Laminar and Areal Expression of Unc5d and Its Role in Cortical Cell Survival
Takemoto, M., Hattori, Y., Zhao, H., Sato, H., Tamada, A., Sasaki, S., Nakajima, K., & Yamamoto, N. (2011) · Cerebral Cortex · doi:10.1093/cercor/bhq265 · Cited by 49 · see citing works
The Asparaginyl Endopeptidase Legumain after Experimental Stroke
Ishizaki, T., Erickson, A., Kuric, E., et al. (2010) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1038/jcbfm.2010.39 · Cited by 44 · see citing works
Sasaki, S., Tabata, H., Tachikawa, K., & Nakajima, K. (2008) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2008.04.002 · Cited by 44 · see citing works
Mouse behavioral mutants have neuroimaging abnormalities
Nieman, B. J., Lerch, J. P., Bock, N. A., Chen, X., Sled, J. G., & Henkelman, R. M. (2007) · Human Brain Mapping · doi:10.1002/hbm.20408 · Cited by 43 · see citing works
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Varghese, M., Keshav, N., Jacot-Descombes, S., Warda, T., Wicinski, B., Dickstein, D. L., Harony-Nicolas, H., De Rubeis, S., Drapeau, E., Buxbaum, J. D., et al. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1736-4 · Cited by 536 · see citing works
Ellegood, J., Anagnostou, E., Babineau, B. A., Crawley, J. N., Lin, L., Genestine, M., DiCicco-Bloom, E., Lai, J. K. Y., Foster, J. A., Peñagarikano, O., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.98 · Cited by 288 · see citing works
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The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity
16p11.2 European Consortium, Maillard, A. M., Ruef, A., Pizzagalli, F., Migliavacca, E., Hippolyte, L., Adaszewski, S., Dukart, J., Ferrari, C., Conus, P., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.145 · Cited by 217 · see citing works
Richter, M., Murtaza, N., Scharrenberg, R., White, S. H., Johanns, O., Walker, S., Yuen, R. K. C., Schwanke, B., Bedürftig, B., Henis, M., et al. (2019) · Molecular Psychiatry · doi:10.1038/s41380-018-0025-5 · Cited by 169 · see citing works
Self-citationSinclair, D., Oranje, B., Razak, K. A., Siegel, S. J., & Schmid, S. (2017) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2016.05.029 · Cited by 198 · see citing works
Opposing Brain Differences in 16p11.2 Deletion and Duplication Carriers
Qureshi, A. Y., Mueller, S., Snyder, A. Z., Mukherjee, P., Berman, J. I., Roberts, T. P. L., Nagarajan, S. S., Spiro, J. E., Chung, W. K., Sherr, E. H., et al. (2014) · The Journal of Neuroscience · doi:10.1523/jneurosci.1366-14.2014 · Cited by 183 · see citing works
Arbogast, T., Ouagazzal, A.-M., Chevalier, C., Kopanitsa, M., Afinowi, N., Migliavacca, E., Cowling, B. S., Birling, M.-C., Champy, M.-F., Reymond, A., et al. (2016) · PLOS Genetics · doi:10.1371/journal.pgen.1005709 · Cited by 151 · see citing works
16p11.2 Copy Number Variations and Neurodevelopmental Disorders
Rein, B., & Yan, Z. (2020) · Trends in Neurosciences · doi:10.1016/j.tins.2020.09.001 · Cited by 160 · see citing works
Lin, G. N., Corominas, R., Lemmens, I., Yang, X., Tavernier, J., Hill, D. E., Vidal, M., Sebat, J., & Iakoucheva, L. M. (2015) · Neuron · doi:10.1016/j.neuron.2015.01.010 · Cited by 155 · see citing works
Brunner, D., Kabitzke, P., He, D., Cox, K., Thiede, L., Hanania, T., Sabath, E., Alexandrov, V., Saxe, M., Peles, E., et al. (2015) · PLOS ONE · doi:10.1371/journal.pone.0134572 · Cited by 111 · see citing works
Contribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion
Tian, D., Stoppel, L. J., Heynen, A. J., Lindemann, L., Jaeschke, G., Mills, A. A., & Bear, M. F. (2015) · Nature Neuroscience · doi:10.1038/nn.3911 · Cited by 109 · see citing works
Male-specific deficits in natural reward learning in a mouse model of neurodevelopmental disorders
Grissom, N. M., McKee, S. E., Schoch, H., Bowman, N., Havekes, R., O'Brien, W. T., Mahrt, E., Siegel, S., Commons, K., Portfors, C., et al. (2018) · Molecular Psychiatry · doi:10.1038/mp.2017.184 · Cited by 92 · see citing works
Yang, M., Mahrt, E. J., Lewis, F., Foley, G., Portmann, T., Dolmetsch, R. E., Portfors, C. V., & Crawley, J. N. (2015) · Autism Research · doi:10.1002/aur.1465 · Cited by 96 · see citing works
Self-citationStoppel, L. J., Kazdoba, T. M., Schaffler, M. D., Preza, A. R., Heynen, A., Crawley, J. N., & Bear, M. F. (2018) · Neuropsychopharmacology · doi:10.1038/npp.2017.236 · Cited by 92 · see citing works
Self-citationCorre, C., Friedel, M., Vousden, D. A., Metcalf, A., Spring, S., Qiu, L. R., Lerch, J. P., & Palmert, M. R. (2016) · Brain Structure and Function · doi:10.1007/s00429-014-0952-0 · Cited by 98 · see citing works
Self-citationHyperactivity and male‐specific sleep deficits in the 16p11.2 deletion mouse model of autism
Angelakos, C. C., Watson, A. J., O'Brien, W. T., Krainock, K. S., Nickl‐Jockschat, T., & Abel, T. (2017) · Autism Research · doi:10.1002/aur.1707 · Cited by 83 · see citing works
Martin-Brevet, S., Rodríguez-Herreros, B., Nielsen, J. A., Moreau, C., Modenato, C., Maillard, A. M., Pain, A., Richetin, S., Jønch, A. E., Qureshi, A. Y., et al. (2018) · Biological Psychiatry · doi:10.1016/j.biopsych.2018.02.1176 · Cited by 75 · see citing works
Blizinsky, K. D., Diaz-Castro, B., Forrest, M. P., Schürmann, B., Bach, A. P., Martin-de-Saavedra, M. D., Wang, L., Csernansky, J. G., Duan, J., & Penzes, P. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1607014113 · Cited by 76 · see citing works
Wang, W., Rein, B., Zhang, F., Tan, T., Zhong, P., Qin, L., & Yan, Z. (2018) · The Journal of Neuroscience · doi:10.1523/jneurosci.0149-18.2018 · Cited by 74 · see citing works
Yang, M., Lewis, F. C., Sarvi, M. S., Foley, G. M., & Crawley, J. N. (2015) · Learning & Memory · doi:10.1101/lm.039602.115 · Cited by 70 · see citing works
Self-citationOxytocin: Parallel Processing in the Social Brain?
Dölen, G. (2015) · Journal of Neuroendocrinology · doi:10.1111/jne.12284 · Cited by 65 · see citing works
Wilkes, B. J., & Lewis, M. H. (2018) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2018.05.022 · Cited by 64 · see citing works
Kumar, V. J., Grissom, N. M., McKee, S. E., Schoch, H., Bowman, N., Havekes, R., Kumar, M., Pickup, S., Poptani, H., Reyes, T. M., et al. (2018) · Translational Psychiatry · doi:10.1038/s41398-018-0157-z · Cited by 54 · see citing works
Walsh, J. J., Llorach, P., Cardozo Pinto, D. F., Wenderski, W., Christoffel, D. J., Salgado, J. S., Heifets, B. D., Crabtree, G. R., & Malenka, R. C. (2021) · Neuropsychopharmacology · doi:10.1038/s41386-021-01091-6 · Cited by 56 · see citing works
Self-citationYang, M., Lewis, F., Foley, G., & Crawley, J. N. (2015) · Physiology & Behavior · doi:10.1016/j.physbeh.2015.04.023 · Cited by 28 · see citing works
Self-citationLu, H.-C., Pollack, H., Lefante, J. J., Mills, A. A., & Tian, D. (2019) · Sleep · doi:10.1093/sleep/zsy253 · Cited by 22 · see citing works
Cárdenas-de-la-Parra, A., Martin-Brevet, S., Moreau, C., Rodriguez-Herreros, B., Fonov, V. S., Maillard, A. M., Zürcher, N. R., Addor, M.-C., Andrieux, J., Arveiler, B., et al. (2019) · NeuroImage · doi:10.1016/j.neuroimage.2019.116155 · Cited by 14 · see citing works
- Authors
- Portmann, T., Yang, M., Mao, R., Panagiotakos, G., Ellegood, J., Dolen, G., Bader, P. L., Grueter, B. A., Goold, C., Fisher, E., Clifford, K., Rengarajan, P., Kalikhman, D., Loureiro, D., Saw, N. L., Zhengqui, Z., Miller, M. A., Lerch, J. P., Henkelman, R. M., Shamloo, M., Malenka, R. C., Crawley, J. N., & Dolmetsch, R. E.
- Affiliations
- Stanford University (US)
- National Institute of Mental Health (US)
- Hospital for Sick Children (CA)
- University of Toronto (CA)
- Corresponding author
- Dolmetsch, Ricardo E.
- ORCID
- Venue
- Cell Reports
- Publisher
- Elsevier BV
- Published
- 2014-05
- Volume
- 7
- Issue
- 4
- Pages
- 1077-1092
- ISSN
- 2211-1247 (ISSN-L)
- PMC
- PMC4251471
- OpenAlex
- W2032319596
- Cited by
- 245
- References
- 62
- Citations by year
- 2026: 14 · 2025: 17 · 2024: 23 · 2023: 29 · 2022: 19 · 2021: 28 · 2020: 13 · 2019: 19 · 2018: 27 · 2017: 18 · 2016: 15 · 2015: 19 · 2014: 4
- FWCI
- 12.23
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Cell Reports (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- eScholarship (California Digital Library) (submittedVersion, cc-by-nc-nd)
- Funders
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (123434)
- National Institutes of Health
- National Institute of Mental Health (F31MH090648, MH090648-02, K99MH091160, MH091160, T32MH020016)
- National Institute of Neurological Disorders and Stroke (NS069375-01A1, P30NS069375)
- 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
- 16p11.2 deletion syndrome, autism spectrum disorder, basal ganglia, striatum, medium spiny neurons, dopamine D2 receptor, dopamine D1 receptor, synaptic defects, basal ganglia circuitry, hyperactivity, circling behavior, habituation deficit, mouse model
- MeSH terms
- Animals, Autistic Disorder, Basal Ganglia, Mental Disorders, Chromosome Deletion, Chromosomes, Human, Pair 16, Disease Models, Animal, Female, Humans, Male, Intellectual Disability, Mice, Inbred C57BL, Mice, Transgenic, Chromosome Disorders, Mice
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