Phenotypes Associated with This Genotype

Genotype
MGI:7664094

• Allelic Composition: Slc2a1^Rgsc200/Slc2a1⁺
• Genetic Background: B6(D2)-Slc2a1^Rgsc200

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

growth/size/body

decreased body weight ( J:281292 )

• after 4 weeks of age, body weight is significantly lower than that in wild type controls

homeostasis/metabolism

abnormal glucose homeostasis ( J:281292 )

• in vivo glucose kinetics analysis showed that k₃, the intracellular glucose phosphorylation rate, is significantly higher than that in wild-type controls in various brain regions (striatum, thalamus, cortex and cerebellum)

• cerebral glucose metabolic rate (rCMRglc), an index of glucose use in the brain, is significantly higher than that in wild-type controls in these brain regions

decreased cerebrospinal fluid glucose level ( J:281292 )

• at 14 weeks of age, cerebrospinal fluid (CSF) glucose levels and the ratio of CSF glucose value to the blood glucose value are significantly lower than those in wild type controls whereas blood glucose levels are relatively normal

abnormal enzyme/coenzyme activity ( J:281292 )

• k₃, the intracellular glucose phosphorylation rate, is significantly higher than that in wild-type controls in various brain regions (striatum, thalamus, cortex and cerebellum), indicating increased hexokinase activity

nervous system

nervous system phenotype ( J:281292 )

N • mice exhibit normal gross brain histology

sporadic seizures ( J:281292 )

• mice exhibit spontaneous visible seizures

abnormal brain wave pattern ( J:281292 )

• EEG recordings show abnormal wave patterns, epileptic waveforms, and interictal discharges, not observed in wild-type controls

• EEG abnormalities are observed with no obvious epileptic seizures and immobility

behavior/neurological

impaired contextual conditioning behavior ( J:281292 )

• on day 2 of a fear-conditioning test, mice show a significantly lower % of freezing than wild-type controls in the conditioning chamber; on day 3, the % of freezing during tone presentation is similar to that in wild-type controls, indicating that only contextual fear conditioning is impaired

increased locomotor activity ( J:281292 )

• at 10-11 weeks of age, mice exhibit a significantly higher locomotor activity in their home cage during the dark period

• however, locomotor activity is normal during the light period

abnormal circadian sleep/wake cycle ( J:281292 )

• mice spend more time awake and less time in NREM sleep than wild-type controls

abnormal non-rapid eye movement sleep pattern ( J:281292 )

• mice spend less time in NREM sleep than wild-type controls

sporadic seizures ( J:281292 )

• mice exhibit spontaneous visible seizures

cellular

decreased cellular glucose uptake ( J:281292 )

• analysis of in vivo glucose kinetics in the brain showed that k₁, the influx rate of glucose, is significantly lower than that in wild-type controls in the striatum, thalamus, cortex and cerebellum

embryo

embryo phenotype ( J:281292 )

N • embryos are viable and appear macroscopically normal at E13.5 and E17.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glucose transporter type 1 deficiency syndrome 1		DOID:0070561	OMIM:606777	J:281292