Mouse Genome Informatics
hm
    Lgi1tm1Mafu/Lgi1tm1Mafu
involves: 129S6/SvEvTac * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• all mice die suddenly during the third week after birth
• however, lethality can be rescued by neuron-specific over expression of the wild-type protein
• no mice survive beyond P25

nervous system
N
• mice exhibit normal paired pulse ratio (J:157578)
• after P14, mice exhibit spontaneous recurrent generalized seizure with sudden onset of wild running and jumping, followed by limb clonus and tonic limb extension unlike wild-type mice
• seizures precede death
• however, the seizure phenotype can be rescued by neuron-specific over expression of the wild-type protein
• AMPA to NMDA ratio of AMPAR-mediated synaptic current is decreased compared to in wild-type mice
• the average amplitude of miniature excitatory postsynaptic currents is decreased compared to in wild-type mice
• however, the frequency is normal

growth/size/body
• beginning around P14

behavior/neurological
• after P14, mice exhibit spontaneous recurrent generalized seizure with sudden onset of wild running and jumping, followed by limb clonus and tonic limb extension unlike wild-type mice
• seizures precede death
• however, the seizure phenotype can be rescued by neuron-specific over expression of the wild-type protein

Mouse Models of Human Disease
OMIM IDRef(s)
Epilepsy, Familial Temporal Lobe, 1; ETL1 600512 J:157578