Phenotypes Associated with This Genotype

Genotype
MGI:5307230

• Allelic Composition: Tg(Lgi1*)#Mpan/0
• Genetic Background: Not Specified

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

behavior/neurological

increased susceptibility to pharmacologically induced seizures ( J:154129 )

• mutants exhibit increased susceptibility to pentylenetetrazol-induced seizures, with mutants developing clonic seizures sooner than controls; however, once mutants are fully kindled, the latency and duration of seizures does not differ from controls, indicating that mutants are prone to kindling epileptogenesis

• however, EEG recording failed to show spontaneous seizures in mutants, even though excitatory transmission is increased, inhibitory transmission exceeds excitatory transmission by about 15-fold

nervous system

increased susceptibility to pharmacologically induced seizures ( J:154129 )

• mutants exhibit increased susceptibility to pentylenetetrazol-induced seizures, with mutants developing clonic seizures sooner than controls; however, once mutants are fully kindled, the latency and duration of seizures does not differ from controls, indicating that mutants are prone to kindling epileptogenesis

• however, EEG recording failed to show spontaneous seizures in mutants, even though excitatory transmission is increased, inhibitory transmission exceeds excitatory transmission by about 15-fold

abnormal axon pruning ( J:154129 )

• mature granule cells show a persistently wide and heavily branched apical dendritic arbor typical of immature wild-type granule cells, indicating an inhibition of postnatal pruning of granule cell apical dendrites in mutants

abnormal dendrite morphology ( J:154129 )

• mature granule cells show a persistently wide and heavily branched apical dendritic arbor typical of immature wild-type granule cells, indicating an inhibition of postnatal pruning of granule cell apical dendrites in mutants

• granule cells of adults however are not immature neurons as the maturation of their passive and active membrane properties occurs normally

abnormal synapse morphology ( J:154129 )

• mutants show an arrest in development of hippocampal medial perforant path-granule cell excitatory synapses, causing an increase of excitatory synaptic transmission

abnormal synaptic transmission ( J:154129 )

• the decrease in hippocampal medial perforant path (MPP) release probability (presynaptic function) with maturation that normally happens in wild-type mice is blocked in mutants

abnormal CNS synaptic transmission ( J:154129 )

• mutants exhibit an increase in excitatory synaptic transmission

increased excitatory postsynaptic current amplitude ( J:154129 )

• amplitude of AMPA receptor-mediated and NMDA receptor-mediated EPSCs, and the frequency of miniature EPSCs are higher in brain slices from mutants than controls

• spontaneous EPSC charge transfer is higher, whereas spontaneous IPSC change transfer is unaltered in mutants

abnormal miniature excitatory postsynaptic currents ( J:154129 )

• the frequency of miniature EPSCs is higher in brain slices from mutants than controls

abnormal paired-pulse inhibition ( J:154129 )

• glutamatergic synapses show depression but no augmentation with repeated stimulation compared to wild-type mice which show neither facilitation nor depression and moderate augmentation

cellular

abnormal axon pruning ( J:154129 )

• mature granule cells show a persistently wide and heavily branched apical dendritic arbor typical of immature wild-type granule cells, indicating an inhibition of postnatal pruning of granule cell apical dendrites in mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial temporal lobe epilepsy 1		DOID:0060748	OMIM:600512	J:154129