Analysis Tools|
Allele Symbol Allele Name Allele ID |
Slc2a1Rgsc200 RIKEN Genomic Sciences Center (GSC), 200 MGI:3811855 |
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| Summary |
5 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• although embryos are obtained in normal Mendelian ratios at E13.5, no embryos are found in the uterus at E17.5
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• embryos show developmental defects at E13.5
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• embryos exhibit abnormal morphology at E13.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• after 4 weeks of age, body weight is significantly lower than that in wild type controls
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• 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
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• 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
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• 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
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| N |
• mice exhibit normal gross brain histology
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• mice exhibit spontaneous visible seizures
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• 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
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• 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
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• 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
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• mice spend more time awake and less time in NREM sleep than wild-type controls
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• mice spend less time in NREM sleep than wild-type controls
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• mice exhibit spontaneous visible seizures
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• 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
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| N |
• embryos are viable and appear macroscopically normal at E13.5 and E17.5
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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 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• lowered posture during seizures
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• immobility
(J:133634)
• immobility during seizures; when immobile, mice continuously open their eyes and sometimes move their vibrissae
(J:281292)
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• slow movement during seizures
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• seizures are induced by transferring mice to new environments, such as an unfamiliar home cage or open field
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• immobility and convulsive seizures start suddenly with vocalization, ataxic gait, lowered posture, and slow movement
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• seizures are induced by transferring mice to new environments, such as an unfamiliar home cage or open field
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• immobility and convulsive seizures start suddenly with vocalization, ataxic gait, lowered posture, and slow movement
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 12/17/2024 MGI 6.24 |
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