Phenotypes Associated with This Genotype

Genotype
MGI:4458390

• Allelic Composition: Scn1a^tm1.1Aesc/Scn1a⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL

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

Spontaneous seizure in an Scn1a^tm1.1Aesc/Scn1a⁺ mouse

nervous system

seizures ( J:161191 )

• mice exhibit low levels of spontaneous generalized seizures characterized by stereotypic motor behaviors unlike wild-type mice

increased susceptibility to pharmacologically induced seizures ( J:161191 )

• 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

environmentally induced seizures ( J:161191 )

• mice exhibit decreased threshold and latency to onset of tonic febrile seizure compared with similarly treated wild-type mice

tonic seizures ( J:161191 )

• mice exhibit decreased threshold and latency to onset of tonic febrile seizure compared with similarly treated wild-type mice

tonic-clonic seizures ( J:161191 )

• 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

abnormal spike wave discharge ( J:161191 )

• seizures are associated with spike discharges at least two times the amplitude of background unlike in wild-type mice

abnormal GABA-mediated receptor currents ( J:161191 )

• 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

seizures ( J:161191 )

• mice exhibit low levels of spontaneous generalized seizures characterized by stereotypic motor behaviors unlike wild-type mice

increased susceptibility to pharmacologically induced seizures ( J:161191 )

• 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

environmentally induced seizures ( J:161191 )

• mice exhibit decreased threshold and latency to onset of tonic febrile seizure compared with similarly treated wild-type mice

tonic seizures ( J:161191 )

• mice exhibit decreased threshold and latency to onset of tonic febrile seizure compared with similarly treated wild-type mice

tonic-clonic seizures ( J:161191 )

• 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

abnormal spike wave discharge ( J:161191 )

• seizures are associated with spike discharges at least two times the amplitude of background unlike in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
generalized epilepsy with febrile seizures plus		DOID:0060170		J:161191