scholarly journals Comprehensive analysis of two Shank3 and the Cacna1c mouse models of autism spectrum disorder

2017 ◽  
Vol 17 (1) ◽  
pp. 4-22 ◽  
Author(s):  
P.A. Kabitzke ◽  
D. Brunner ◽  
D. He ◽  
P.A. Fazio ◽  
K. Cox ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Mouse Models ◽  
Autism Spectrum ◽  
Comprehensive Analysis ◽  
Spectrum Disorder

scholarly journals Comprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder

PLoS ONE ◽  
2015 ◽  
Vol 10 (8) ◽  
pp. e0134572 ◽  
Author(s):  
Daniela Brunner ◽  
Patricia Kabitzke ◽  
Dansha He ◽  
Kimberly Cox ◽  
Lucinda Thiede ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Mouse Models ◽  
Autism Spectrum ◽  
Comprehensive Analysis ◽  
Spectrum Disorder

scholarly journals Intranasal oxytocin administration ameliorates social behavioral deficits in a POGZWT/Q1038R mouse model of autism spectrum disorder

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Kohei Kitagawa ◽  
Kensuke Matsumura ◽  
Masayuki Baba ◽  
Momoka Kondo ◽  
Tomoya Takemoto ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Social Behavior ◽  
Mouse Model ◽  
Mouse Models ◽  
De Novo ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
De Novo Mutation ◽  
Behavioral Deficits

AbstractAutism spectrum disorder (ASD) is a highly prevalent neurodevelopmental disorder characterized by core symptoms of impaired social behavior and communication. Recent studies have suggested that the oxytocin system, which regulates social behavior in mammals, is potentially involved in ASD. Mouse models of ASD provide a useful system for understanding the associations between an impaired oxytocin system and social behavior deficits. However, limited studies have shown the involvement of the oxytocin system in the behavioral phenotypes in mouse models of ASD. We have previously demonstrated that a mouse model that carries the ASD patient-derived de novo mutation in the pogo transposable element derived with zinc finger domain (POGZWT/Q1038R mice), showed ASD-like social behavioral deficits. Here, we have explored whether oxytocin (OXT) administration improves impaired social behavior in POGZWT/Q1038R mice and found that intranasal oxytocin administration effectively restored the impaired social behavior in POGZWT/Q1038R mice. We also found that the expression level of the oxytocin receptor gene (OXTR) was low in POGZWT/Q1038R mice. However, we did not detect significant changes in the number of OXT-expressing neurons between the paraventricular nucleus of POGZWT/Q1038R mice and that of WT mice. A chromatin immunoprecipitation assay revealed that POGZ binds to the promoter region of OXTR and is involved in the transcriptional regulation of OXTR. In summary, our study demonstrate that the pathogenic mutation in the POGZ, a high-confidence ASD gene, impairs the oxytocin system and social behavior in mice, providing insights into the development of oxytocin-based therapeutics for ASD.

scholarly journals Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients

2019 ◽  
Vol 10 ◽  
Author(s):  
Péter Balicza ◽  
Noémi Ágnes Varga ◽  
Bence Bolgár ◽  
Klára Pentelényi ◽  
Renáta Bencsik ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Rare Variants ◽  
Autism Spectrum ◽  
Comprehensive Analysis ◽  
Spectrum Disorder

scholarly journals Reorganization of Circuits Underlying Cerebellar Modulation of Prefrontal Cortical Dopamine in Mouse Models of Autism Spectrum Disorder

2013 ◽  
Vol 12 (4) ◽  
pp. 547-556 ◽  
Author(s):  
Tiffany D. Rogers ◽  
Price E. Dickson ◽  
Eric McKimm ◽  
Detlef H. Heck ◽  
Dan Goldowitz ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Mouse Models ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Prefrontal Cortical

scholarly journals Comprehensive Analysis of Two Shank3 and the Cacna1c Mouse Models of Autism Spectrum Disorder

2016 ◽  
Author(s):  
Patricia Kabitzke ◽  
Daniela Brunner ◽  
Dansha He ◽  
Pamela A. Fazio ◽  
Kimberly Cox ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Mouse Models ◽  
Gene Mutations ◽  
Behavioral Effect ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Therapeutic Interventions ◽  
General Anxiety ◽  
Background Strain ◽  
Negative Results

AbstractTo expand, analyze and extend published behavioral phenotypes relevant to autism spectrum disorder (ASD), we present a study of three ASD genetic mouse models: Feng’s Shank3tm2Gfng model, hereafter Shank3/F, Jiang’s Shank3tm1Yhj model, hereafter Shank3/J, and the Cacna1c deletion model. The Shank3/F and Shank3/J models mimick gene mutations associated with Phelan-Mcdermid syndrome and the Cacna1c model recapitulates the deletion underlying Timothy syndrome. The current study utilizes both standard and novel, computer-vision based behavioral tests, the same methdology used in our previously published companion report on the Cntnap2 null and 16p11.2 deletion models. Overall, some but not all behaviors replicated published findings. Those that replicated, such as social behavior and overgrooming in Shank3 models, also tended to be milder than previous reports. The Shank3/F model, and to a much lesser extent, the Shank3/J and Cacna1c models, showed hypoactivity and a general anxiety-like behavior triggered by external stimuli which pervaded social interactions. We did not detect deficits in a cognitive procedural learning test nor did we observe perseverative behavior in these models. We did, however, find differences in exploratory patterns of Cacna1c mutant mice suggestive of a behavioral effect in a social setting. In addition, Shank3/F but not Shank3/J KO or Cacna1c HET showed differences in sensory-gating. Discrepancies in our current results from previous reports may be dependent on subtle differences in testing conditions, housing enrichment, or background strain. Both positive and negative results from this study will be useful in identifying the most robust and replicable behavioral signatures within and across mouse models of autism. Understanding these phenotypes may shed light of which features to study when screening compounds for potential therapeutic interventions.

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