Strain-dependence of the Angelman Syndrome phenotypes in Ube3a maternal deficiency mice

Scientific Reports
Heather A BornAnne E Anderson


Angelman syndrome (AS) is a genetic neurodevelopmental disorder, most commonly caused by deletion or mutation of the maternal allele of the UBE3A gene, with behavioral phenotypes and seizures as key features. Currently no treatment is available, and therapeutics are often ineffective in controlling AS-associated seizures. Previous publications using the Ube3a maternal deletion model have shown behavioral and seizure susceptibility phenotypes, however findings have been variable and merit characterization of electroencephalographic (EEG) activity. In this study, we extend previous studies comparing the effect of genetic background on the AS phenotype by investigating the behavioral profile, EEG activity, and seizure threshold. AS C57BL/6J mice displayed robust behavioral impairments, spontaneous EEG polyspikes, and increased cortical and hippocampal power primarily driven by delta and theta frequencies. AS 129 mice performed poorly on wire hang and contextual fear conditioning and exhibited a lower seizure threshold and altered spectral power. AS F1 hybrid mice (C57BL/6J × 129) showed milder behavioral impairments, infrequent EEG polyspikes, and fewer spectral power alterations. These findings indicate the effect of common genet...Continue Reading


Feb 1, 1989·Journal of Medical Genetics·M PembreyM Super
Jun 1, 1988·European Journal of Pediatrics·S G BoydM A Patton
Dec 18, 1996·American Journal of Medical Genetics·L A LaanO F Brouwer
Apr 1, 1997·Electroencephalography and Clinical Neurophysiology·D I RubinD W Klass
Apr 18, 1998·Annals of Neurology·B A MinassianA Delgado-Escueta
Apr 21, 1999·Brain Research. Brain Research Reviews·W Klimesch
Oct 28, 1999·Clinical Neurology and Neurosurgery·L A LaanO F Brouwer
Jul 21, 2001·Developmental Medicine and Child Neurology·J C Smith
Dec 19, 2001·Journal of Medical Genetics·A C LossieD J Driscoll
Feb 8, 2002·Neuron·György Buzsáki
Mar 16, 2002·Neurobiology of Disease·Kiyonori MiuraJoseph Wagstaff
Feb 5, 2003·Journal of Medical Genetics·Jill Clayton-Smith, L A Laan
Jul 31, 2003·Epilepsia·Kette D ValenteMaria J Marques-Dias
Aug 28, 2003·Experimental and Toxicologic Pathology : Official Journal of the Gesellschaft Für Toxikologische Pathologie·Tim KarlStephan von Hörsten
Mar 9, 2004·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·Silvia MianoRaffaele Ferri
May 8, 2004·Brain & Development·Oliviero BruniMaurizio Elia
Jun 5, 2004·American Journal of Mental Retardation : AJMR·Robert DiddenLeopold M G Curfs
Jun 1, 2005·Neurobiology of Disease·Damien ColasNicole Sarda
Oct 26, 2005·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Sarah K BergrenJennifer A Kearney
Feb 10, 2006·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Michael J Kahana
Feb 14, 2006·American Journal of Medical Genetics. Part a·Charles A WilliamsJoseph Wagstaff
May 28, 2009·Disease Models & Mechanisms·M Cecilia LjungbergGabriella D'Arcangelo
Sep 24, 2009·Physiology & Behavior·Annika LüttjohannGilles van Luijtelaar
Oct 29, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Charles A Williams
Feb 22, 2012·Epilepsy & Behavior : E&B·Martina VendrameSanjeev V Kothare
Jan 9, 2013·Behavioural Brain Research·Hsien-Sung HuangSheryl S Moy
Jun 19, 2013·Journal of Visualized Experiments : JoVE·Robert M J Deacon
Mar 19, 2014·Journal of Visualized Experiments : JoVE·Hirotaka ShojiTsuyoshi Miyakawa
Oct 25, 2014·The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry·Adam WichniakMarek Jarema
Apr 8, 2015·Proceedings of the National Academy of Sciences of the United States of America·Caleigh Mandel-BrehmMichael E Greenberg
Oct 9, 2015·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·J Christopher EhlenJason P DeBruyne


Sep 28, 2018·Human Molecular Genetics·Michael W LewisJames L Resnick
Oct 24, 2018·The Journal of Clinical Investigation·Bin GuBenjamin D Philpot
Sep 11, 2019·The Journal of Clinical Investigation·Bin GuBenjamin D Philpot
Oct 19, 2019·Human Molecular Genetics·S Jesse LopezJanine M LaSalle
Jan 22, 2020·Autism Research : Official Journal of the International Society for Autism Research·Andie DodgeK R Nash
Feb 23, 2020·The FEBS Journal·Carina MarangaSimão Teixeira da Rocha
Dec 24, 2019·Journal of Neuroscience Research·Xin Yang
Oct 28, 2020·Autism Research : Official Journal of the International Society for Autism Research·Emmanuel CruzCristina M Alberini
Aug 29, 2020·Neuroscience and Biobehavioral Reviews·Sehrish JavedWei-Hsiang Huang
Nov 19, 2020·Clinical EEG and Neuroscience·Luis A MartinezAnne E Anderson
Feb 24, 2020·Neuroscience·Diana C RotaruYpe Elgersma

Related Concepts

Ube3a protein, mouse
Fear (Mental Process)
Mice, Inbred C57BL
Non-epileptic Convulsion
Angelman Syndrome
Mice, Knockout
Maze Learning

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Angelman Syndrome

Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.