Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

A mouse model for Glut-1 haploinsufficiency.

Dong Wang1, Juan M Pascual, Hong Yang

  • 1Colleen Giblin Laboratories for Pediatric Neurology Research, Department of Neurology, Columbia University, New York, NY 10032, USA.

Human Molecular Genetics
|February 25, 2006
PubMed
Summary

Glut-1 deficiency syndrome (Glut-1 DS) is modeled in mice lacking one copy of the GLUT-1 gene. These mice exhibit key symptoms of the human condition, aiding further research.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

A therapeutic role for a regulatory GLUT1-associated lncRNA in GLUT1-deficient mice.

The Journal of clinical investigation·2026
Same author

4,5-dihydroxyhexanoic acid is a robust circulating and urine marker of mitochondrial disease and its severity.

bioRxiv : the preprint server for biology·2026
Same author

Further Comments on Risdiplam for Prenatal Therapy of Spinal Muscular Atrophy.

The New England journal of medicine·2025
Same author

Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts.

Neurology·2025
Same author

Obituary: Abe M. Chutorian, MD.

Pediatric neurology·2025
Same author

A therapeutic role for a regulatory glucose transporter1 (Glut1)-associated natural antisense transcript.

bioRxiv : the preprint server for biology·2025

Area of Science:

  • Neuroscience
  • Genetics
  • Metabolic Disorders

Background:

  • Glut-1 deficiency syndrome (Glut-1 DS) presents with infantile seizures, developmental delay, and microcephaly.
  • The condition results from haploinsufficiency of the glucose transporter 1 (GLUT-1) gene, affecting blood-brain barrier function.

Purpose of the Study:

  • To develop and characterize a heterozygous haploinsufficient mouse model for Glut-1 DS.
  • To investigate the in vivo pathophysiology of Glut-1 DS and evaluate potential therapeutic strategies.

Main Methods:

  • Generation of a GLUT-1+/- mouse model through targeted disruption of the promoter and exon 1 regions.
  • Phenotypic analysis including electroencephalography (EEG), motor activity assessment, and brain glucose uptake measurement via positron emission tomography (PET).

Related Experiment Videos

  • Biochemical analysis using western blot to quantify brain Glut-1 expression.

    • Main Results:

    • GLUT-1+/- mice displayed epileptiform discharges on EEG, impaired motor function, and incoordination.
    • The mice exhibited hypoglycorrhachia, microencephaly, and reduced brain glucose uptake (assessed by PET).
    • Western blot analysis confirmed a 66% decrease in brain Glut-1 expression in GLUT-1+/- mice.

    Conclusions:

    • The GLUT-1+/- mouse model accurately recapitulates the human phenotype of Glut-1 DS.
    • This model provides a valuable platform for studying Glut-1 function and disease mechanisms.
    • The model is suitable for preclinical testing of novel treatment strategies for Glut-1 DS.