Behavioral and Neuroanatomical Phenotypes in Mouse Models of Autism

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• 作者：Jacob Ellegood ; Jacqueline N. Crawley
• 关键词：Autism ; Magnetic resonance imaging (MRI) ; Behaviour ; Neuroanatomy
• 刊名：Neurotherapeutics
• 出版年：2015
• 出版时间：July 2015
• 年：2015
• 卷：12
• 期：3
• 页码：521-533
• 全文大小：361 KB
• 参考文献：1.American Psychiatric Association. The diagnostic and statistical manual of mental disorders, fifth edition. American Psychiatric Association, Arlington, VA, 2013.
  2.Huerta M, Lord C. Diagnostic evaluation of autism spectrum disorders. Pediatr Clin North Am 2012;59:103-11.PubMed Central PubMed
  3.Kim YS, Fombonne E, Koh YJ, Kim SJ. A comparison of DSM-IV pervasive developmental disorder and DSM-5 autism spectrum disorder prevalence in an epidemiologic sample. J Am Acad Child Adolesc Psychiatry 2014;53:500-08.PubMed Central PubMed
  4.Huguet G, Ey E, Bourgeron T. The genetic landscapes of autism spectrum disorders. Annu Rev Genomics Hum Genet 2013;14:191-13.PubMed
  5.Jeste SS, Geschwind DH. Disentangling the heterogeneity of autism spectrum disorder through genetic findings. Nat Rev Neurol 2014;10:74-1.PubMed Central PubMed
  6.Silverman JL, Yang M, Lord C, Crawley JN. Behavioural phenotyping assays for mouse models of autism. Nat Rev Neurosci 2010;11:490-02.PubMed Central PubMed
  7.Spooren W, Lindemann L, Ghosh A. Synapse dysfunction in autism: a molecular medicine approach to drug discovery in neurodevelopmental disorders. Trends Pharmacological Sci 2012;33:669-84.
  8.Crawley JN. Designing mouse behavioral tasks relevant to autistic-like behaviors. Ment Retard Dev Disabil Res Rev 2005;10:248-58.
  9.Moy SS, Nadler JJ, Perez A, Barbaro RP. Sociability and preference for social novelty in five inbred strains: an approach to assess autistic-like behavior in mice. Genes Brain Behav 2004;3:287-02.PubMed
  10.McFarlane HG, Kusek GK, Yang M, Phoenix JL, Bolivar VJ, Crawley JN. Autism-like behavioral phenotypes in BTBR T-?tf/J mice. Genes Brain Behav 2008;7:152-63.PubMed
  11.Scattoni ML, Ricceri L, Crawley JN. Unusual repertoire of vocalizations in adult BTBR T-?tf/J mice during three types of social encounters. Genes Brain Behav 2011;10:44-6.PubMed Central PubMed
  12.W?hr M, Roullet FI, Crawley JN. Reduced scent marking and ultrasonic vocalizations in the BTBR T-?tf/J mouse model of autism. Genes Brain Behav 2011;10:35-3.PubMed Central PubMed
  13.Yang M, Silverman JL, Crawley JN. Automated three-chambered social approach task for mice. Curr Protoc Neurosci 2011;Chapter 8: Unit 8.26.
  14.Crawley JN. Translational animal models of autism and neurodevelopmental disorders. Dialogues Clin Neurosci 2012;14:293-05.PubMed Central PubMed
  15.Pe?a J, Feliciano C, Ting JT, et al. Shank3 mutant mice display autistic-like behaviours and striatal dysfunction. Nature 2011;472:437-42.PubMed Central PubMed
  16.Yang M, Bozdagi O, Scattoni ML, et al. Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice. J Neurosci 2012;32: 6525-541.PubMed Central PubMed
  17.Pe?agarikano O, Abrahams BS, Herman EI, et al. Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Cell 2011;147:235-46.PubMed Central PubMed
  18.Clipperton-Allen AE, Page DT. Pten haploinsufficient mice show broad brain overgrowth but selective impairments in autism-relevant behavioral tests. Hum Mol Genet 2014;23:3490-505.PubMed
  19.Tsai PT, Hull C, Chu Y, et al. Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. Nature 2012;488:647-51.PubMed Central PubMed
  20.Brielmaier J, Matteson PG, Silverman JL, et al. Autism-relevant social abnormalities and cognitive deficits in engrailed-2 knockout mice. PLoS ONE 2012;7:e40914.PubMed Central PubMed
  21.DeLorey TM, Sahbaie P, Hashemi E, Homanics GE, Clark JD. Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorder. Behavioural Brain Research 2008;187:207-20.PubMed Central PubMed
  22.Smith SEP, Zhou Y-D, Zhang G, Jin Z, Stoppel DC, Anderson MP. Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice. Sci Transl Med 2011;3:103ra97.PubMed Central PubMed
  23.Pobbe RLH, Pearson BL, Defensor EB, et al. Oxytocin receptor knockout mice display deficits in the expression of autism-related behaviors. Horm Behav 2012;61:436-44.PubMed Central PubMed
  24.Crawley JN, Chen T, Puri A, et al. Social approach behaviors in oxytocin knockout mice: comparison of two independent lines tested in different laboratory environments. Neuropeptides 2007;41:145-63.PubMed
  25.Silverman JL, Turner SM, Barkan CL, et al. Sociability and motor functions in Shank1 mutant mice. Brain Res 2011;1380:120-37.PubMed Central PubMed
  26.W?hr M, Silverman JL, Scattoni ML, et al. Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2. Behav Brain Res 2013;251:50-4.PubMed Central PubMed
  27.Wurzman R, Forcelli PA, Griffey CJ, Kromer LF. Repetitiv
• 作者单位：Jacob Ellegood (1)
  Jacqueline N. Crawley (2)
  
  1. Mouse Imaging Centre (MICe), Hospital for Sick Children, 25 Orde Street, Toronto, ON, M5T 3H7, Canada
  2. MIND Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, 4625 2nd Avenue, Sacramento, CA, 95817, USA
  
• 刊物主题：Neurosciences; Neurology; Neurosurgery; Neurobiology;
• 出版者：Springer US
• ISSN：1878-7479

文摘

In order to understand the consequences of the mutation on behavioral and biological phenotypes relevant to autism, mutations in many of the risk genes for autism spectrum disorder have been experimentally generated in mice. Here, we summarize behavioral outcomes and neuroanatomical abnormalities, with a focus on high-resolution magnetic resonance imaging of postmortem mouse brains. Results are described from multiple mouse models of autism spectrum disorder and comorbid syndromes, including the 15q11-13, 16p11.2, 22q11.2, Cntnap2, Engrailed2, Fragile X, Integrinβ3, MET, Neurexin1a, Neuroligin3, Reelin, Rett, Shank3, Slc6a4, tuberous sclerosis, and Williams syndrome models, and inbred strains with strong autism-relevant behavioral phenotypes, including BTBR and BALB. Concomitant behavioral and neuroanatomical abnormalities can strengthen the interpretation of results from a mouse model, and may elevate the usefulness of the model system for therapeutic discovery.