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Human Molecular Genetics Advance Access originally published online on February 23, 2006
Human Molecular Genetics 2006 15(7):1169-1179; doi:10.1093/hmg/ddl032
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© The Author 2006. Published by Oxford University Press. All rights reserved.
The online version of this article has been published under an open access model. Users are entitled to use, reproduce, disseminate, or display the open access version of this article for non-commercial purposes provided that: the original authorship is properly and fully attributed; the Journal and Oxford University Press are attributed as the original place of publication with the correct citation details given; if an article is subsequently reproduced or disseminated not in its entirety but only in part or as a derivative work this must be clearly indicated. For commercial re-use, please contact: journals.permissions@oxfordjournals.org

A mouse model for Glut-1 haploinsufficiency

Dong Wang1, Juan M. Pascual1, Hong Yang1, Kristin Engelstad1, Xia Mao1, Jianfeng Cheng2, Jong Yoo3, Jeffrey L. Noebels3 and Darryl C. De Vivo1,*

1Colleen Giblin Laboratories for Pediatric Neurology Research, Department of Neurology and 2Department of Psychiatry, Division of Biostatistics, New York State Psychiatric Institute, Columbia University, New York, NY, USA and 3Developmental Neurogenetics Laboratory, Department of Neurology, Baylor College of Medicine, Houston, TX, USA

* To whom correspondence should be addressed at: Columbia University, Neurological Institute, 710 West 168th Street, New York, NY 10032, USA. Tel: +1 2123055244; Fax: +1 2123057036; Email: dcd1{at}columbia.edu

Received December 12, 2005; Revised February 8, 2006; Accepted February 15, 2006

Glut-1 deficiency syndrome (Glut-1 DS, OMIM #606777) is characterized by infantile seizures, developmental delay, acquired microcephaly and hypoglycorrhachia. It is caused by haploinsufficiency of the blood–brain barrier hexose carrier. Heterozygous mutations or hemizygosity of the GLUT-1 gene cause Glut-1 DS. We generated a heterozygous haploinsufficient mouse model by targeted disruption of the promoter and exon 1 regions of the mouse GLUT-1 gene. GLUT-1+/– mice have epileptiform discharges on electroencephalography (EEG), impaired motor activity, incoordination, hypoglycorrhachia, microencephaly, decreased brain glucose uptake as measured by positron emission tomography (PET) scan and decreased brain Glut-1 expression by western blot (66%). The GLUT-1+/– murine phenotype mimics the classical human presentation of Glut-1 DS. This GLUT-1+/– mouse model creates an opportunity to investigate Glut-1 function, to examine the pathophysiology of Glut-1 DS in vivo and to evaluate new treatment strategies.


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