Analysis Tools
mortality/aging
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• mice show 100% lethal seizures starting as early as P12, fully penetrant by 3 weeks
• newborns administered a modest dose of an AAV9-based vector encoding a ubiquitously expressed, Dnm1-specific interfering RNA (RNAi) bivalently in tail-to-tail configuration with a neuron-specific, RNAi resistant, codon-optimized Dnm1 cDNA (RNAi and cDNA gene therapy) show prolonged survival with almost full growth recovery, however older RNAi and cDNA gene therapy treated mice exhibit aggression and females are not successful at raising their pups
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growth/size/body
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• mice show growth defects
• newborns administered a modest dose of the RNAi and cDNA gene therapy show prolonged survival with almost full growth recovery
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behavior/neurological
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• mice show 100% lethal seizures starting as early as P12, fully penetrant by 3 weeks
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nervous system
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• mice show 100% lethal seizures starting as early as P12, fully penetrant by 3 weeks
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• the amplitude of evoked inhibitory responses onto excitatory neurons is decreased and the paired pulse ratio is increased, indicating an impairment in presynaptic GABA release
• however, amplitude and paired pulse ratios of evoked excitatory currents onto inhibitory neurons are unaltered
• the alterations in transmission from inhibitory to excitatory neurons are rectified by RNAi and cDNA gene therapy application
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• although no change in the frequency of mIPSCs is seen, the size of IPSCs is increased in neurons and is reversed by tetrodotoxin treatment
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• the paired pulse ratio of evoked inhibitory responses onto excitatory neurons is increased
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| developmental and epileptic encephalopathy 31A | DOID:0080437 |
OMIM:616346 |
J:373297 | |
