A novel GLUT1DS model strain by ENU mutagenesis
Courtesy of Tamio Furuse, Ph.D.
Visible seizure in the M100200 mutant
Glucose transporter 1 deficiency syndrome (GLUT1DS; OMIM#606777) is a carbohydrate metabolic disorder caused by a mutation in the GLUT1 (SLC2A1) gene [1,2,3]. GLUT1 gene codes a glucose transporter 1 (GLUT1) protein, which supply energy source glucose to the brain through the blood-brain barrier. Therefore, GLUT1DS patients show the various central nervous system dysfunctions by cerebral glucose insufficiency.
A novel GLUT1DS model mice (RBRC-GSC0242) are isolated in ENU mutagenesis program . This strain show some abnormal phenotypes commonly observed in GLUT1DS patients as follows: learning deficiency, gait disturbance, convulsive seizures, epileptic electroencephalogram, decreased cerebrospinal fluid glucose values, abnormal sleep-wake patterns, abnormal glucose kinetics in the brain, etc.
At now, ketogenic diet treatment is effective to control seizures and other motor symptoms. However, fundamental therapeutic approaches for GLUT1DS have not been established. This GLUT1DS model mice are useful for elucidation of mechanisms and development of new therapeutic drugs or methods.
|Depositor||:||RIKEN Genomic Sciences Center|
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A new mouse model of GLUT1 deficiency syndrome exhibits abnormal sleep-wake patterns and alterations of glucose kinetics in the brain.
Dis Model Mech. ; 12(9), 2019.
Saori Mizuno, Ph.D.
Contact: Experimental Animal Division, RIKEN BioResource Research Center (email@example.com)
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