Mouse Genome Informatics
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    Scn1atm1.1Aesc/Scn1atm1.1Aesc
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
       
mortality/aging
• average life span is 18.5 days with mice dying between P16 and P26

nervous system
N
• mice exhibit normal neuronal cell abundance and cell viability (J:161191)
• mice exhibit visible seizures at P16 unlike wild-type mice
• seizures last 30 to 90 seconds and consist of excessive jumping, repetitive jerking of all four limbs, head nodding, and clonus of the forelimbs and tail unlike wild-type mice
• observed in some seizures
• 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
• Gaba-ergic interneurons exhibit decreased action potential firing compared with 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

growth/size/body
• at P15

behavior/neurological
• mice exhibit visible seizures at P16 unlike wild-type mice
• seizures last 30 to 90 seconds and consist of excessive jumping, repetitive jerking of all four limbs, head nodding, and clonus of the forelimbs and tail unlike wild-type mice
• observed in some seizures
• 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

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