Phenotypes Associated with This Genotype

Genotype
MGI:4458389

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

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

mortality/aging

postnatal lethality, complete penetrance ( J:161191 )

• average life span is 18.5 days with mice dying between P16 and P26

nervous system

nervous system phenotype ( J:161191 )

N • mice exhibit normal neuronal cell abundance and cell viability

seizures ( 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

maximal tonic hindlimb extension seizures ( J:161191 )

• observed in some seizures

environmentally induced seizures ( J:161191 )

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

clonic seizures ( J:161191 )

tonic seizures ( J:161191 )

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

impaired ability to fire action potentials ( J:161191 )

• Gaba-ergic interneurons exhibit decreased action potential firing compared with 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

growth/size/body

decreased body weight ( J:161191 )

• at P18

weight loss ( J:161191 )

• at P15

behavior/neurological

seizures ( 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

maximal tonic hindlimb extension seizures ( J:161191 )

• observed in some seizures

environmentally induced seizures ( J:161191 )

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

clonic seizures ( J:161191 )

tonic seizures ( J:161191 )

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