Source:http://linkedlifedata.com/resource/pubmed/id/19896504
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
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| pubmed:dateCreated |
2010-2-15
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| pubmed:abstractText |
The 9q34.3 subtelomeric deletion syndrome is a newly defined mental retardation syndrome, caused by haplo-insufficiency of the euchromatin histone methyltransferase 1 (EHMT1) gene. Patients also have childhood hypotonia, facial dysmorphisms, delay in reaching developmental milestones, and behavioral problems like aggressive outbursts, hypoactivity, or autistic-like features. Male and female heterozygous Ehmt1 knockout mice (Ehmt1(+/-), aged 1-20 months, kept on a C57BL/6J background), were used to investigate whether they mimic the patients behavioral characteristics by comparing their behavior to wildtype littermates. The Ehmt1(+/-) mice revealed reduced activity and exploration, with increased anxiety compared to wildtype mice when exposed to novel environments in the open field, object exploration, marble burying, light-dark box, mirrored chamber and T-maze tests. They also demonstrated diminished social play when encountering a mouse from a different litter, and a delayed or absent response to social novelty when exposed to a stranger mouse. However, no differences in phenotyper home cage locomotor activity or rotarod motor function were observed between Ehmt1(+/-) and wildtype mice. Together, these results indicate that the hypoactivity and the autistic-like features of 9q34.3 subtelomeric deletion syndrome patients are recapitulated in this Ehmt1(+/-) mouse model, and that the hypoactivity is apparently not caused by any motor dysfunction. Together, these observations make it plausible that the Ehmt1(+/-) mouse is a faithful mammalian model for the autistic-like behavioral features of patients with the 9q34.3 subtelomeric deletion syndrome.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Mar
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| pubmed:issn |
1872-7549
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| pubmed:author |
pubmed-author:BalemansMonique C MMC,
pubmed-author:EikelenboomNathalie W DNW,
pubmed-author:HuibersManon M HMM,
pubmed-author:KuipersArthur JAJ,
pubmed-author:PijpersMichael M C AMM,
pubmed-author:ShinkaiYoichiY,
pubmed-author:TachibanaMakotoM,
pubmed-author:Van der ZeeCatharina E E MCE,
pubmed-author:van BokhovenHansH,
pubmed-author:van SummerenRik C JRC
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| pubmed:copyrightInfo |
Copyright 2009 Elsevier B.V. All rights reserved.
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| pubmed:issnType |
Electronic
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| pubmed:day |
17
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| pubmed:volume |
208
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| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
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| pubmed:pagination |
47-55
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| pubmed:meshHeading |
pubmed-meshheading:19896504-Adaptation, Ocular,
pubmed-meshheading:19896504-Age Factors,
pubmed-meshheading:19896504-Analysis of Variance,
pubmed-meshheading:19896504-Animals,
pubmed-meshheading:19896504-Animals, Newborn,
pubmed-meshheading:19896504-Anxiety,
pubmed-meshheading:19896504-Autistic Disorder,
pubmed-meshheading:19896504-Body Weight,
pubmed-meshheading:19896504-Disease Models, Animal,
pubmed-meshheading:19896504-Euchromatin,
pubmed-meshheading:19896504-Exploratory Behavior,
pubmed-meshheading:19896504-Female,
pubmed-meshheading:19896504-Genotype,
pubmed-meshheading:19896504-Grooming,
pubmed-meshheading:19896504-Histone-Lysine N-Methyltransferase,
pubmed-meshheading:19896504-Male,
pubmed-meshheading:19896504-Maze Learning,
pubmed-meshheading:19896504-Mice,
pubmed-meshheading:19896504-Mice, Inbred C57BL,
pubmed-meshheading:19896504-Mice, Knockout,
pubmed-meshheading:19896504-Motor Activity,
pubmed-meshheading:19896504-Sex Factors,
pubmed-meshheading:19896504-Social Behavior
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| pubmed:year |
2010
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| pubmed:articleTitle |
Reduced exploration, increased anxiety, and altered social behavior: Autistic-like features of euchromatin histone methyltransferase 1 heterozygous knockout mice.
|
| pubmed:affiliation |
Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. m.balemans@antrg.umcn.nl
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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