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Phenotypes Associated with This Genotype
Genotype
MGI:4458389
Allelic
Composition
Scn1atm1.1Aesc/Scn1atm1.1Aesc
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 (49 available)
phenotype observed in females
phenotype observed in males
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
• 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


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
08/17/2016
MGI 6.05
The Jackson Laboratory