Phenotypes associated with this allele

• Allele Symbol: Scn1b^tm1.1Bion
• Allele Name: targeted mutation 1.1, Bionomics Limited
• Allele ID: MGI:4829975
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scn1b^tm1.1Bion/Scn1b^tm1.1Bion	Not Specified	MGI:4830675
ht2	Scn1b^tm1.1Bion/Scn1b^+	Not Specified	MGI:4830676

Genotype
MGI:4830675

hm1

• Allelic Composition: Scn1b^tm1.1Bion/Scn1b^tm1.1Bion
• Genetic Background: Not Specified

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

mortality/aging

premature death ( J:163771 )

• mice usually die before P25

nervous system

seizures ( J:163771 )

• spontaneous and heat-induced

environmentally induced seizures ( J:163771 )

• 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

• febrile seizures rapidly evolve into tonic-clonic seizures unlike in wild-type mice

• mice exhibit febrile seizures at lower temperatures than wild-type mice

tonic-clonic seizures ( J:163771 )

• febrile seizures rapidly evolve into tonic-clonic seizures unlike in wild-type mice

abnormal brain wave pattern ( J:163771 )

growth/size/body

postnatal growth retardation ( J:163771 )

behavior/neurological

tremors ( J:163771 )

• severe

seizures ( J:163771 )

• spontaneous and heat-induced

environmentally induced seizures ( J:163771 )

• 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

• febrile seizures rapidly evolve into tonic-clonic seizures unlike in wild-type mice

• mice exhibit febrile seizures at lower temperatures than wild-type mice

tonic-clonic seizures ( J:163771 )

• febrile seizures rapidly evolve into tonic-clonic seizures unlike in wild-type mice

Genotype
MGI:4830676

ht2

• Allelic Composition: Scn1b^tm1.1Bion/Scn1b⁺
• Genetic Background: Not Specified

nervous system

environmentally induced seizures ( J:163771 )

• 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

abnormal nervous system electrophysiology ( J:163771 )

• 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

abnormal action potential ( J:163771 )

• 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

environmentally induced seizures ( J:163771 )

• 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