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Phenotypes Associated with This Genotype
Genotype
MGI:4830676
Allelic
Composition
Scn1btm1.1Bion/Scn1b+
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn1btm1.1Bion mutation (1 available); any Scn1b mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• when exposed to a stream of warm air, mice exhibit febrile seizures (including behavioral arrest, facial automatisms, and early epileptiform discharges localized to the hippocampus) unlike similarly treated wild-type mice
• mice exhibit febrile seizures at lower temperatures than wild-type mice
• average burst duration in subicular pyramidal neurons is lengthened compared to in wild-type cells
• neurons exhibit axonal hyperexcitability, increased spike gain, and increased burst firing compared with wild-type cells
• however, total burst events and frequency of action potentials within bursts is normal
• the number of action potentials (APs) per bursts is increased compared to in wild-type mice
• neurons begin firing APs at lower drive currents compared to in wild-type mice
• the threshold for AP initiation is more negative than in wild-type cells
• the amplitude of first APs is higher than in wild-type cells
• the AP half-width is decreased compared to in wild-type cells
• however, the frequency of action potentials within bursts is normal

behavior/neurological
• when exposed to a stream of warm air, mice exhibit febrile seizures (including behavioral arrest, facial automatisms, and early epileptiform discharges localized to the hippocampus) unlike similarly treated wild-type mice
• mice exhibit febrile seizures at lower temperatures than wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
generalized epilepsy with febrile seizures plus DOID:0060170 J:163771


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory