Mouse Genome Informatics
ht
    Scn1atm1.1Aesc/Scn1a+
involves: 129X1/SvJ * C57BL/6J * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Spontaneous seizure in an Scn1atm1.1Aesc/Scn1a+ mouse

nervous system
• mice exhibit low levels of spontaneous generalized seizures characterized by stereotypic motor behaviors unlike wild-type mice
• latency to generalized tonic clonic seizures induced by flurothyl is reduced compared to in similarly treated wild-type mice
• however, treatment with valporic acid (VPA) restores latency to normal and susceptibility to kainic acid-induced seizures is normal
• mice exhibit decreased threshold and latency to onset of tonic febrile seizure compared with similarly treated wild-type mice
• mice exhibit decreased threshold and latency to onset of tonic febrile seizure compared with similarly treated wild-type mice
• latency to generalized tonic clonic seizures induced by flurothyl is reduced compared to in similarly treated wild-type mice
• however, treatment with valporic acid (VPA) restores latency to normal
• seizures are associated with spike discharges at least two times the amplitude of background unlike in wild-type mice
• mice exhibit a trend towards increased current density in GABA-ergic pyramidal neurons and a decrease in total sodium current amplitude in bipolar neurons compared with wild-type cells
• after repeated depolarization, GABA-ergic neurons exhibit a greater decrease in current than in wild-type neurons and slower recovery from inactivation

behavior/neurological
• mice exhibit low levels of spontaneous generalized seizures characterized by stereotypic motor behaviors unlike wild-type mice
• latency to generalized tonic clonic seizures induced by flurothyl is reduced compared to in similarly treated wild-type mice
• however, treatment with valporic acid (VPA) restores latency to normal and susceptibility to kainic acid-induced seizures is normal
• mice exhibit decreased threshold and latency to onset of tonic febrile seizure compared with similarly treated wild-type mice
• mice exhibit decreased threshold and latency to onset of tonic febrile seizure compared with similarly treated wild-type mice
• latency to generalized tonic clonic seizures induced by flurothyl is reduced compared to in similarly treated wild-type mice
• however, treatment with valporic acid (VPA) restores latency to normal
• seizures are associated with spike discharges at least two times the amplitude of background unlike in wild-type mice

Mouse Models of Human Disease
OMIM IDRef(s)
Generalized Epilepsy with Febrile Seizures Plus, Type 1; GEFSP1 604233 J:161191