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A mouse model for Glut-1 haploinsufficiency.

Human molecular genetics | Apr 1, 2006

http://www.ncbi.nlm.nih.gov/pubmed/16497725

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.

Pubmed ID: 16497725 RIS Download

Mesh terms: Animals | Brain | Electroencephalography | Embryo, Mammalian | Female | Glucose | Glucose Transporter Type 1 | Heterozygote | Homozygote | Humans | Mice | Models, Animal | Models, Genetic | Motor Activity | Phenotype | Seizures

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Associated grants

  • Agency: NICHD NIH HHS, Id: HD24064
  • Agency: NINDS NIH HHS, Id: NS01698
  • Agency: NINDS NIH HHS, Id: NS29709
  • Agency: NINDS NIH HHS, Id: NS37949
  • Agency: NCRR NIH HHS, Id: RR00645

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