Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism
Open accessAbstract
Substantial evidence suggests that chromosomal abnormalities contribute to the risk of autism. The duplication of human chromosome 15q11-13 is known to be the most frequent cytogenetic abnormality in autism. We have modeled this genetic change in mice by using chromosome engineering to generate a 6.3 Mb duplication of the conserved linkage group on mouse chromosome 7. Mice with a paternal duplication display poor social interaction, behavioral inflexibility, abnormal ultrasonic vocalizations, and correlates of anxiety. An increased MBII52 snoRNA within the duplicated region, affecting the serotonin 2c receptor (5-HT2cR), correlates with altered intracellular Ca(2+) responses elicited by a 5-HT2cR agonist in neurons of mice with a paternal duplication. This chromosome-engineered mouse model for autism seems to replicate various aspects of human autistic phenotypes and validates the relevance of the human chromosome abnormality. This model will facilitate forward genetics of developmental brain disorders and serve as an invaluable tool for therapeutic development.
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The altered vocal behavior suggests abnormal communication in Dock4 KO mice.
“This altered vocal behavior was reminiscent of some ASD mice models 33–35, suggesting abnormal communication in Dock4 KO mice.”
From Autism-like social deficit generated by Dock4 deficiency is rescued by restoration of Rac1 activity and NMDA receptor function. (2021) · cites this paper as [33]
Mice with a paternal duplication of 15q11-13 display poor social interaction, behavioral inflexibility, abnormal ultrasonic vocalizations, and correlates of anxiety.
“Mice with a paternal duplication of 15q11-13 display poor social interaction, behavioral inflexibility, abnormal ultrasonic vocalizations, and correlates of anxiety (Nakatani et al., 2009).”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Nakatani et al., 2009
Behavioral abnormalities associated with CNVs have been confirmed in animal models.
“Behavioral abnormalities associated with CNVs have been confirmed in animal models (Horev et al., 2011; Nakatani et al., 2009; Peca et al., 2011; Tabuchi et al., 2007; Tamada et al., 2010).”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Nakatani et al., 2009
Neither matDp/+ nor patDp/+ mice have gross morphological or histological brain abnormalities.
“Neither of these mice have any gross morphological or histological abnormalities in the brain [253].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [253]
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Requirement of hippocampal neurogenesis for the behavioral effects of antidepressants
Santarelli, L., Saxe, M., Gross, C., Surget, A., Battaglia, F., Dulawa, S., Weisstaub, N., Lee, J., Duman, R., Arancio, O., et al. (2003) · Science · doi:10.1126/science.1083328 · Cited by 4,321 · see citing works
The tail suspension test: A new method for screening antidepressants in mice
Steru, L., Chermat, R., Thierry, B., & Simon, P. (1985) · Psychopharmacology · doi:10.1007/bf00428203 · Cited by 3,534 · see citing works
Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795 · see citing works
Model of autism: increased ratio of excitation/inhibition in key neural systems
Rubenstein, J. L. R., & Merzenich, M. M. (2003) · Genes, Brain and Behavior · doi:10.1034/j.1601-183x.2003.00037.x · Cited by 2,768 · 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
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
Teratocarcinomas and Embryonic Stem Cells: A Practical Approach
Robertson, E. J., & Beddington, R. (1988) · Development · doi:10.1242/dev.102.1.3 · Cited by 1,034 · see citing works
A Neuroligin-3 Mutation Implicated in Autism Increases Inhibitory Synaptic Transmission in Mice
Tabuchi, K., Blundell, J., Etherton, M. R., Hammer, R. E., Liu, X., Powell, C. M., & Südhof, T. C. (2007) · Science · doi:10.1126/science.1146221 · Cited by 997 · see citing works
Pten Regulates Neuronal Arborization and Social Interaction in Mice
Kwon, C.-H., Luikart, B. W., Powell, C. M., Zhou, J., Matheny, S. A., Zhang, W., Li, Y., Baker, S. J., & Parada, L. F. (2006) · Neuron · doi:10.1016/j.neuron.2006.03.023 · Cited by 970 · see citing works
Automated apparatus for quantitation of social approach behaviors in mice
Nadler, J. J., Moy, S. S., Dold, G., Trang, D., Simmons, N., Perez, A., Young, N. B., Barbaro, R. P., Piven, J., Magnuson, T. R., et al. (2004) · Genes, Brain and Behavior · doi:10.1111/j.1601-183x.2004.00071.x · Cited by 775 · see citing works
Genetics of austim: complex aetiology for a heterogeneous disorder
Folstein, S. E., & Rosen-Sheidley, B. (2001) · Nature Reviews Genetics · doi:10.1038/35103559 · Cited by 771 · see citing works
The snoRNA HBII-52 Regulates Alternative Splicing of the Serotonin Receptor 2C
Kishore, S., & Stamm, S. (2005) · Science · doi:10.1126/science.1118265 · Cited by 699 · see citing works
Copy-number variations associated with neuropsychiatric conditions
Cook Jr, E. H., & Scherer, S. W. (2008) · Nature · doi:10.1038/nature07458 · Cited by 659 · see citing works
(1997) · PubMed · Cited by 645 · see citing works
Genome Organization, Function, and Imprinting in Prader-Willi and Angelman Syndromes
Nicholls, R. D., & Knepper, J. L. (2001) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.2.1.153 · Cited by 625 · 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
Jamain, S., Radyushkin, K., Hammerschmidt, K., Granon, S., Boretius, S., Varoqueaux, F., Ramanantsoa, N., Gallego, J., Ronnenberg, A., Winter, D., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0711555105 · Cited by 556 · see citing works
Lord, C., Cook, E. H., Leventhal, B. L., & Amaral, D. G. (2000) · Neuron · doi:10.1016/s0896-6273(00)00115-x · Cited by 555 · see citing works
The paradox of cognitive flexibility in autism
Geurts, H. M., Corbett, B., & Solomon, M. (2009) · Trends in Cognitive Sciences · doi:10.1016/j.tics.2008.11.006 · Cited by 538 · see citing works
Designing mouse behavioral tasks relevant to autistic‐like behaviors
Crawley, J. N. (2004) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20039 · Cited by 520 · see citing works
The orphan nuclear receptor RORα regulates circadian transcription of the mammalian core-clock Bmal1
Akashi, M., & Takumi, T. (2005) · Nature Structural & Molecular Biology · doi:10.1038/nsmb925 · Cited by 493 · see citing works
Self-citationConditional calcineurin knockout mice exhibit multiple abnormal behaviors related to schizophrenia
Miyakawa, T., Leiter, L. M., Gerber, D. J., Gainetdinov, R. R., Sotnikova, T. D., Zeng, H., Caron, M. G., & Tonegawa, S. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1432926100 · Cited by 489 · see citing works
Self-citationWhat's Wrong With My Mouse?: Behavioral Phenotyping of Transgenic and Knockout Mice
Crawley, J. N. (2007) · doi:10.1002/0470119055 · Cited by 474 · see citing works
Social interaction and sensorimotor gating abnormalities in mice lacking Dvl1
Lijam, N., Paylor, R., McDonald, M. P., Crawley, J. N., Deng, C.-X., Herrup, K., Stevens, K. E., Maccaferri, G., McBain, C. J., Sussman, D. J., et al. (1997) · Cell · doi:10.1016/s0092-8674(00)80354-2 · Cited by 470 · see citing works
Belmonte, M. K., Cook, E. H., Anderson, G. M., Rubenstein, J. L. R., Greenough, W. T., Beckel-Mitchener, A., Courchesne, E., Boulanger, L. M., Powell, S. B., Levitt, P. R., et al. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001499 · Cited by 442 · see citing works
The developmental neurobiology of autism spectrum disorder
DiCicco-Bloom, E., Lord, C., Zwaigenbaum, L., Courchesne, E., Dager, S. R., Schmitz, C., Schultz, R. T., Crawley, J., & Young, L. J. (2006) · The Journal of Neuroscience · doi:10.1523/jneurosci.1712-06.2006 · Cited by 434 · see citing works
Failure of neuronal homeostasis results in common neuropsychiatric phenotypes
Ramocki, M. B., & Zoghbi, H. Y. (2008) · Nature · doi:10.1038/nature07457 · Cited by 399 · see citing works
Vorstman, J. A. S., Staal, W. G., van Daalen, E., van Engeland, H., Hochstenbach, P. F. R., & Franke, L. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001757 · Cited by 353 · cited 3× · see citing works
“Autism is one of the most heritable neuropsychiatric disorders (Geschwind and Levitt, 2007), suggesting that genetic factors play an important role in its etiology (Vorstman et al., 2006).”
Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome
Moretti, P. M., Bouwknecht, J. A., Teague, R. M., Paylor, R. E., & Zoghbi, H. Y. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddi016 · Cited by 343 · see citing works
Levitt, P. R., Eagleson, K. L., & Powell, E. M. (2004) · Trends in Neurosciences · doi:10.1016/j.tins.2004.05.008 · Cited by 331 · see citing works
Autism: Many Genes, Common Pathways?
Geschwind, D. H. (2008) · Cell · doi:10.1016/j.cell.2008.10.016 · Cited by 328 · see citing works
The social deficits of the oxytocin knockout mouse
Winslow, J. T., & Insel, T. R. (2002) · Neuropeptides · doi:10.1054/npep.2002.0909 · Cited by 307 · see citing works
Yamamoto, T., Nakahata, Y., Tanaka, M., Yoshida, M., Soma, H., Shinohara, K., Yasuda, A., Mamine, T., & Takumi, T. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m509600200 · Cited by 302 · see citing works
Self-citationGenomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders
Lee, J. A., & Lupski, J. R. (2006) · Neuron · doi:10.1016/j.neuron.2006.09.027 · Cited by 289 · see citing works
Volkmar, F. R., & Pauls, D. L. (2003) · The Lancet · doi:10.1016/s0140-6736(03)14471-6 · Cited by 288 · see citing works
Whitaker‐Azmitia, P. M. (2004) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2004.07.022 · Cited by 274 · see citing works
AUTISM AS A PARADIGMATIC COMPLEX GENETIC DISORDER
Veenstra-VanderWeele, J. M., Christian, S. L., & Cook, E. H. (2004) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.5.061903.180050 · Cited by 271 · see citing works
Light/dark Transition Test for Mice
Takao, K., & Miyakawa, T. (2006) · Journal of Visualized Experiments · doi:10.3791/104 · Cited by 268 · see citing works
Self-citationYamasaki, N., Maekawa, M., Kobayashi, K., Kajii, Y., Maeda, J., Soma, M., Takao, K., Tanda, K., Ohira, K., Toyama, K., et al. (2008) · Molecular Brain · doi:10.1186/1756-6606-1-6 · Cited by 268 · see citing works
Self-citationUltra-sounds in young rodents. I. Changes with age in albino mice
Noirot, É. (1966) · Animal Behaviour · doi:10.1016/s0003-3472(66)80045-3 · Cited by 254 · see citing works
Serotonin modulates the response of embryonic thalamocortical axons to netrin-1
Bonnin, A., Torii, M., Wang, L., RAKIC, P. T., & Levitt, P. R. (2007) · Nature Neuroscience · doi:10.1038/nn1896 · Cited by 249 · see citing works
Crawley, J. N., Chen, T., Puri, A., Washburn, R., Sullivan, T. L., Hill, J. M., Young, N. B., Nadler, J. J., Moy, S. S., Young, L. J., et al. (2007) · Neuropeptides · doi:10.1016/j.npep.2007.02.002 · Cited by 232 · see citing works
Molecular genetics of autism spectrum disorder
Veenstra-VanderWeele, J. M., & Cook, E. H. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001505 · Cited by 220 · see citing works
Toward a developmental neurobiology of autism
Polleux, F., & Lauder, J. M. (2004) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20044 · Cited by 216 · see citing works
Myosin-Va Facilitates the Accumulation of mRNA/Protein Complex in Dendritic Spines
Yoshimura, A., Fujii, R., Watanabe, Y., Okabe, S., Fukui, K., & Takumi, T. (2006) · Current Biology · doi:10.1016/j.cub.2006.10.024 · Cited by 180 · see citing works
Self-citationMiyakawa, T., Yared, E., Pak, J. H., Huang, F. L., Huang, K., & Crawley, J. N. (2001) · Hippocampus · doi:10.1002/hipo.1092 · Cited by 178 · see citing works
Self-citationChung, Y., Jonkers, J., Kitson, H., et al. (2004) · Genome Research · doi:10.1101/gr.1878804 · Cited by 162 · see citing works
Self-citationSeeburg, P. H. (2002) · Neuron · doi:10.1016/s0896-6273(02)00760-2 · Cited by 148 · see citing works
Riccio, O., Potter, G., Walzer, C., Vallet, P., Szabó, G., Vutskits, L., Kiss, J. Z., & Dayer, A. G. (2008) · Molecular Psychiatry · doi:10.1038/mp.2008.89 · Cited by 138 · see citing works
Characterisation of interstitial duplications and triplications of chromosome 15q11–q13
Roberts, S. E., Dennis, N. R., Browne, C. E., Willatt, L. R., Woods, G. C., Cross, I., Jacobs, P. A., & Thomas, S. N. (2002) · Human Genetics · doi:10.1007/s00439-002-0678-6 · Cited by 135 · see citing works
Mouse models of autism spectrum disorders: The challenge for behavioral genetics
Moy, S. S., Nadler, J. J., Magnuson, T., & Crawley, J. N. (2006) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30081 · Cited by 135 · see citing works
Zheng, B., Mills, A. A., & Bradley, A. (1999) · Nucleic Acids Research · doi:10.1093/nar/27.11.2354 · Cited by 134 · see citing works
Self-citationAutism and 15q11‐q13 disorders: Behavioral, genetic, and pathophysiological issues
Dykens, E. M., Sutcliffe, J. S., & Levitt, P. R. (2004) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20042 · Cited by 108 · see citing works
Autism: highly heritable but not inherited
Beaudet, A. L. (2007) · Nature Medicine · doi:10.1038/nm0507-534 · Cited by 100 · see citing works
Mohandas, T. K., Park, J. P., Spellman, R. A., Filiano, J. J., Mamourian, A. C., Hawk, A. B., Belloni, D. R., Noll, W. W., & Moeschler, J. B. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990212)82:4 · Cited by 98 · see citing works
Takao, K., Yamasaki, N., & Miyakawa, T. (2007) · Neuroscience Research · doi:10.1016/j.neures.2007.02.009 · Cited by 81 · see citing works
Self-citationAntiobesity-like effects of the 5-HT2C receptor agonist WAY-161503
Rosenzweig-Lipson, S. J., Zhang, J., Mazandarani, H., et al. (2006) · Brain Research · doi:10.1016/j.brainres.2005.12.052 · Cited by 78 · see citing works
Characteristics of two cases with dup(15) (q 11.2-q 12): one of maternal and one of paternal origin
Mao, R., Jalal, S. M., Snow, K., Michels, V. V., Szabo, S. M., & Babovic‐Vuksanovic, D. (2000) · Genetics in Medicine · doi:10.1097/00125817-200003000-00003 · Cited by 78 · see citing works
Identifying Autism Susceptibility Genes
Maestrini, E., Paul, A., Monaco, A. P., & Bailey, A. J. (2000) · Neuron · doi:10.1016/s0896-6273(00)00081-7 · Cited by 73 · see citing works
Bolton, P., Veltman, M. W. M., Weisblatt, E. J. L., Holmes, J. R., Thomas, N. S., Youings, S. A., Thompson, R. J., Roberts, S. E., Dennis, N. R., Browne, C. E., et al. (2004) · Psychiatric Genetics · doi:10.1097/00041444-200409000-00002 · Cited by 71 · see citing works
Fez1 is layer‐specifically expressed in the adult mouse neocortex
Inoue, K., Terashima, T., Nishikawa, T., & Takumi, T. (2004) · European Journal of Neuroscience · doi:10.1111/j.1460-9568.2004.03763.x · Cited by 59 · see citing works
Self-citationVeltman, M. W. M., Thompson, R. J., Craig, E. E., Dennis, N. R., Roberts, S. E., Moore, V., Brown, J. A., & Bolton, P. (2005) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-004-1039-1 · Cited by 53 · see citing works
A question of balance: a proposal for new mouse models of autism
Murcia, C. L., Gulden, F. O., & Herrup, K. (2004) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2004.07.001 · Cited by 50 · see citing works
Mouse Chromosome Engineering for Modeling Human Disease
van der Weyden, L., & Bradley, A. (2006) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.7.080505.115741 · Cited by 42 · see citing works
Self-citationMice lacking the kf-1 gene exhibit increased anxiety- but not despair-like behavior
Tsujimura, A. (2008) · Frontiers in Behavioral Neuroscience · doi:10.3389/neuro.08.004.2008 · Cited by 41 · see citing works
Regulating the Social Brain: A New Role for CD38
Young, L. J. (2007) · Neuron · doi:10.1016/j.neuron.2007.04.011 · Cited by 33 · see citing works
An animal model of autism: behavioural studies in the GS guinea-pig
Caston, J., Yon, E., Mellier, D., Godfrey, H. P., Delhaye‐Bouchaud, N., & Mariani, J. (1998) · European Journal of Neuroscience · doi:10.1046/j.1460-9568.1998.00272.x · Cited by 29 · see citing works
Iwamoto, K., Bundo, M., & Kato, T. (2005) · RNA · doi:10.1261/rna.2114505 · Cited by 28 · see citing works
Self-citation
Flagged first, then by citations
Research works printed but not linked: 1
- Crawley J.N. What's Wrong with My Mouse? Second Edition 2007 John Wiley & Sons, Inc. New York
Cited by
Sorted by citations
Behavioural phenotyping assays for mouse models of autism
Silverman, J. L., Yang, M., Lord, C., & Crawley, J. N. (2010) · Nature Reviews Neuroscience · doi:10.1038/nrn2851 · Cited by 1,462 · see citing works
Peñagarikano, O., Abrahams, B. S., Herman, E. I., Winden, K. D., Gdalyahu, A., Dong, H., Sonnenblick, L. I., Gruver, R., Almajano, J., Bragin, A., et al. (2011) · Cell · doi:10.1016/j.cell.2011.08.040 · Cited by 1,075 · see citing works
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854 · see citing works
Advancing the understanding of autism disease mechanisms through genetics
de la Torre-Ubieta, L., Won, H., Stein, J. L., & Geschwind, D. H. (2016) · Nature Medicine · doi:10.1038/nm.4071 · Cited by 827 · 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
Autism spectrum disorder: neuropathology and animal models
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
The serotonin system in autism spectrum disorder: From biomarker to animal models
Muller, C. L., Anacker, A. M. J., & Veenstra-VanderWeele, J. (2016) · Neuroscience · doi:10.1016/j.neuroscience.2015.11.010 · Cited by 531 · see citing works
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons
Huang, H.-S., Allen, J. A., Mabb, A. M., King, I. F., Miriyala, J., Taylor-Blake, B., Sciaky, N., Dutton, J. W., Lee, H.-M., Chen, X., et al. (2012) · Nature · doi:10.1038/nature10726 · Cited by 387 · see citing works
CHD8 haploinsufficiency results in autistic-like phenotypes in mice
Katayama, Y., Nishiyama, M., Shoji, H., Ohkawa, Y., Kawamura, A., Sato, T., Suyama, M., Takumi, T., Miyakawa, T., & Nakayama, K. I. (2016) · Nature · doi:10.1038/nature19357 · Cited by 353 · see citing works
Self-citationDosage-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
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
Self-citationStriatal Circuits as a Common Node for Autism Pathophysiology
Fuccillo, M. V. (2016) · Frontiers in Neuroscience · doi:10.3389/fnins.2016.00027 · Cited by 269 · see citing works
Smith, S. E. P., Zhou, Y.-D., Zhang, G., Jin, Z., Stoppel, D. C., & Anderson, M. P. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3002627 · Cited by 267 · see citing works
Sebat, J., Levy, D. L., & McCarthy, S. E. (2009) · Trends in Genetics · doi:10.1016/j.tig.2009.10.004 · Cited by 260 · see citing works
Chd8 Mutation Leads to Autistic-like Behaviors and Impaired Striatal Circuits
Platt, R. J., Zhou, Y., Slaymaker, I. M., Shetty, A. S., Weisbach, N. R., Kim, J.-A., Sharma, J., Desai, M., Sood, S., Kempton, H. R., et al. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.03.052 · Cited by 240 · see citing works
Silverman, J. L., Smith, D. G., Rizzo, S. J. S., Karras, M. N., Turner, S. M., Tolu, S. S., Bryce, D. K., Smith, D. L., Fonseca, K., Ring, R. H., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003501 · Cited by 251 · see citing works
An epigenetic framework for neurodevelopmental disorders: From pathogenesis to potential therapy
Millan, M. J. (2013) · Neuropharmacology · doi:10.1016/j.neuropharm.2012.11.015 · Cited by 229 · see citing works
Wöhr, M., Roullet, F. I., Hung, A. Y., Sheng, M., & Crawley, J. N. (2011) · PLoS ONE · doi:10.1371/journal.pone.0020631 · Cited by 220 · 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
Deidda, G., Bozarth, I. F., & Cancedda, L. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00119 · Cited by 192 · see citing works
Autism genetics: searching for specificity and convergence
Berg, J. M., & Geschwind, D. H. (2012) · Genome Biology · doi:10.1186/gb-2012-13-7-247 · Cited by 192 · see citing works
Stephenson, D. T., O'Neill, S. M., Narayan, S., Tiwari, A., Arnold, E., Samaroo, H. D., Du, F., Ring, R. H., Campbell, B., Pletcher, M., et al. (2011) · Molecular Autism · doi:10.1186/2040-2392-2-7 · Cited by 180 · see citing works
Regulatory role of small nucleolar RNAs in human diseases
Stepanov, G. A., Filippova, J. A., Komissarov, A. B., Kuligina, E. V., Richter, V. A., & Semenov, D. V. (2015) · BioMed Research International · doi:10.1155/2015/206849 · Cited by 154 · see citing works
Enhanced synapse remodelling as a common phenotype in mouse models of autism
Isshiki, M., Tanaka, S., Kuriu, T., Tabuchi, K., Takumi, T., & Okabe, S. (2014) · Nature Communications · doi:10.1038/ncomms5742 · Cited by 152 · see citing works
Self-citationOptogenetic insights on the relationship between anxiety-related behaviors and social deficits
Allsop, S. A., Vander Weele, C. M., Wichmann, R., & Tye, K. M. (2014) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2014.00241 · Cited by 150 · see citing works
Kas, M. J., Glennon, J. C., Buitelaar, J., Ey, E., Biemans, B., Crawley, J., Ring, R. H., Lajonchere, C., Esclassan, F., Talpos, J., et al. (2014) · Psychopharmacology · doi:10.1007/s00213-013-3268-5 · Cited by 132 · see citing works
The role of cerebellar circuitry alterations in the pathophysiology of autism spectrum disorders
Mosconi, M. W., Wang, Z., Schmitt, L. M., Tsai, P., & Sweeney, J. A. (2015) · Frontiers in Neuroscience · doi:10.3389/fnins.2015.00296 · Cited by 112 · see citing works
Low sociability in BTBR T+tf/J mice is independent of partner strain
Yang, M., Abrams, D. N., Zhang, J. Y., Weber, M. D., Katz, A. M., Clarke, A. M., Silverman, J. L., & Crawley, J. N. (2012) · Physiology & Behavior · doi:10.1016/j.physbeh.2011.12.025 · Cited by 112 · see citing works
Guo, D., Peng, Y., Wang, L., Sun, X., Wang, X., Liang, C., Yang, X., Li, S., Xu, J., Ye, W.-C., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-019-0472-7 · Cited by 102 · see citing works
Sociability Deficits and Altered Amygdala Circuits in Mice Lacking Pcdh10, an Autism Associated Gene
Schoch, H., Kreibich, A. S., Ferri, S. L., White, R. S., Bohorquez, D., Banerjee, A., Port, R. G., Dow, H. C., Cordero, L., Pallathra, A. A., et al. (2017) · Biological Psychiatry · doi:10.1016/j.biopsych.2016.06.008 · Cited by 92 · see citing works
Serotonin rebalances cortical tuning and behavior linked to autism symptoms in 15q11-13 CNV mice
Nakai, N., Nagano, M., Saitow, F., Watanabe, Y., Kawamura, Y., Kawamoto, A., Tamada, K., Mizuma, H., Onoe, H., Watanabe, Y., et al. (2017) · Science Advances · doi:10.1126/sciadv.1603001 · Cited by 89 · see citing works
Self-citationComparative RNA editing in autistic and neurotypical cerebella
Eran, A., Li, J. B., Vatalaro, K., McCarthy, J., Rahimov, F., Collins, C., Markianos, K., Margulies, D. M., Brown, E. N., Calvo, S. E., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2012.118 · Cited by 70 · see citing works
Li, H., Zhao, P., Xu, Q., Shan, S., Hu, C., Qiu, Z., & Xu, X. (2016) · Scientific Reports · doi:10.1038/srep29878 · Cited by 56 · 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
Tatsukawa, T., Ogiwara, I., Mazaki, E., Shimohata, A., & Yamakawa, K. (2018) · Neurobiology of Disease · doi:10.1016/j.nbd.2018.01.009 · Cited by 47 · see citing works
MET Receptor Tyrosine Kinase as an Autism Genetic Risk Factor
Peng, Y., Huentelman, M., Smith, C., & Qiu, S. (2013) · International Review of Neurobiology · doi:10.1016/b978-0-12-418700-9.00005-8 · Cited by 49 · see citing works
Juvenile stress induces behavioral change and affects perineuronal net formation in juvenile mice
Ueno, H., Suemitsu, S., Murakami, S., Kitamura, N., Wani, K., Matsumoto, Y., Okamoto, M., Aoki, S., & Ishihara, T. (2018) · BMC Neuroscience · doi:10.1186/s12868-018-0442-z · Cited by 39 · see citing works
O’Reilly, K. C., Anacker, A. M. J., Rogers, T. D., Forsberg, C. G., Wang, J., Zhang, B., Blakely, R. D., & Veenstra-VanderWeele, J. (2020) · Neuroscience Letters · doi:10.1016/j.neulet.2020.135027 · Cited by 8 · see citing works
- Authors
- Nakatani, J., Tamada, K., Hatanaka, F., Ise, S., Ohta, H., Inoue, K., Tomonaga, S., Watanabe, Y., Chung, Y. J., Banerjee, R., Iwamoto, K., Kato, T., Okazawa, M., Yamauchi, K., Tanda, K., Takao, K., Miyakawa, T., Bradley, A., & Takumi, T.
- Affiliations
- Kyoto University (JP)
- Wellcome Sanger Institute (GB)
- RIKEN Center for Brain Science (JP)
- Hiroshima University (JP)
- Fujita Health University (JP)
- Corresponding author
- Takumi, Toru
- ORCID
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2009-06
- Volume
- 137
- Issue
- 7
- Pages
- 1235-1246
- ISSN
- 0092-8674 (ISSN-L)
- PMC
- PMC3710970
- OpenAlex
- W2129381979
- Cited by
- 482
- References
- 68
- Citations by year
- 2026: 16 · 2025: 20 · 2024: 19 · 2023: 26 · 2022: 20 · 2021: 34 · 2020: 24 · 2019: 24 · 2018: 28 · 2017: 34 · 2016: 32 · 2015: 35 · 2014: 37 · 2013: 28 · 2012: 40
- FWCI
- 20.36
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Cell (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Hiroshima University Institutional Repository (submittedVersion, other-oa)
- Hiroshima University Acedemic Information Repository (Hiroshima University) (submittedVersion)
- Institutional Repositories DataBase (IRDB) (submittedVersion, cc-by-nc-nd)
- Funders
- Japan Society for the Promotion of Science (21300121)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- autism spectrum disorder, mouse chromosome 7, social interaction deficits, behavioral inflexibility, ultrasonic vocalizations, anxiety, 5-HT2C receptor, intracellular calcium response, chromosomal abnormalities, neurodevelopmental disorders
- MeSH terms
- Animals, Autistic Disorder, Behavior, Animal, Chromosomes, Human, Pair 15, Disease Models, Animal, Humans, Interpersonal Relations, Male, Neurons, Signal Transduction, Gene Expression, Chromosomes, Mammalian, Receptor, Serotonin, 5-HT2C, Rotarod Performance Test, Mice
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