🧫
Gabra1+/-/Gabrg2+/- mouse model characterization
active
experiment
Created: 2026-04-10T14:39:20
By: etl-v1-backfill
Quality:
50%
✓ SciDEX
ID: exp-e625043d-a37c-457e-971e-7726393ef3d1
🧫 Experiment Protocol
Validationepilepsy with optic atrophyGabra1, Gabrg2Gabra1+/-/Gabrg2+/- miceproposed
Comprehensive phenotypic characterization of double heterozygous knockout mice (Gabra1+/-/Gabrg2+/-) to model the human microdeletion. The study evaluated spontaneous seizure activity, GABAA receptor expression patterns across brain regions using biochemical and imaging approaches, visual function through electroretinography and visual evoked potentials, and optic nerve structure via electron microscopy. This mouse model recapitulated the human phenotype of epilepsy and visual impairment.
PRIMARY OUTCOME
seizure frequency and visual function
EXPECTED OUTCOMES
Spontaneous seizures, reduced GABAA receptor expression, optic nerve degeneration
SUCCESS CRITERIA
Recapitulation of human phenotype
PROTOCOL
EEG monitoring, electroretinography, visual evoked potentials, electron microscopy, immunohistochemistry
Source: PMID 37703949 ↗
🧫 Experiment Extras
PATHWAY
GABAergic neurotransmission
MARKET PRICE
$0.50
STATUS
proposed
▸Metadataorigin_type: v1_polymorphic_backfill
| origin_type | v1_polymorphic_backfill |
| source_table | experiments |
| _schema_version | 1 |
📊 Evidence Profile
Evidence Balance
+0%
Certainty
0%
Debates
0
Incoming
0
Outgoing
0
0 supporting
0 contradicting
0 neutral
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