mortality/aging
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• only 20.5% of pups weaned are homozygous for the mutation, indicating that ~5% of homozygotes die prior to weaning
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behavior/neurological
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• Gabrd-deficient mice show a 54% and 38% reduction in sleep time duration to alphaxalone at 8 mg/kg and 16 mg/kg respectively compared to controls
• an injection of 8 mg/kg of pregnanolone results in a 42% reduction in sleep time in mutants compared to controls
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• percent freezing of female Gabrd-deficient mice is significantly greater than that of wild-type during the tone test in a context conditioning paradigm 24 hours after the cued conditioning
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• percent freezing of female Gabrd-deficient mice is significantly greater than that of wild-type during trace conditioning
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• mutants display fewer open arm entries in the elevated plus maze; injection of ganaxolone to wild-type mice resulted in a 2-fold increase in open arm entries but had no effect on mutants
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• ganaxolone failed to prolong PTZ-induced absence-like seizures in null mice but increased freezing 74% in controls
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nervous system
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• ganaxolone failed to prolong PTZ-induced absence-like seizures in null mice but increased freezing 74% in controls
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• decay time of mini IPSCs is faster in mutants than in wild-type controls
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reproductive system
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• in the F3 generation, homozygous matings produced statistically fewer pups (6.3 pups/litter) than wild-type pairs (7.6 pups/litter)
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