| First Author | Wang D | Year | 2006 |
| Journal | Hum Mol Genet | Volume | 15 |
| Issue | 7 | Pages | 1169-79 |
| PubMed ID | 16497725 | Mgi Jnum | J:108250 |
| Mgi Id | MGI:3623561 | Doi | 10.1093/hmg/ddl032 |
| Citation | Wang D, et al. (2006) A mouse model for Glut-1 haploinsufficiency. Hum Mol Genet 15(7):1169-79 |
| abstractText | 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. |
