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Phenotypes Associated with This Genotype
Genotype
MGI:4458390
Allelic
Composition
Scn1atm1.1Aesc/Scn1a+
Genetic
Background
involves: 129X1/SvJ * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn1atm1.1Aesc mutation (0 available); any Scn1a mutation (44 available)
phenotype observed in females
phenotype observed in males
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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory