Phenotypes associated with this allele

• Allele Symbol: Scn1b^tm1Isom
• Allele Name: targeted mutation 1, Lori L Isom
• Allele ID: MGI:3043422
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scn1b^tm1Isom/Scn1b^tm1Isom	involves: 129X1/SvJ * C57BL/6	MGI:3043548

Genotype
MGI:3043548

hm1

• Allelic Composition: Scn1b^tm1Isom/Scn1b^tm1Isom
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

mortality/aging

lethality at weaning, complete penetrance ( J:90136 )

• on average mice die around 20 days of age, with the earliest death at 13 days of age and the latest at 26 days of age

behavior/neurological

ataxia ( J:90136 )

seizures ( J:90136 )

• frequent spontaneous generalized seizures

• first observed around 10 days of age

growth/size/body

postnatal growth retardation ( J:90136 )

vision/eye

abnormal optic nerve morphology ( J:90136 )

• axon degeneration observed in the optic nerve

nervous system

nervous system phenotype ( J:90136 )

N • normal sodium currents in hippocampal neurons, however there is an abnormal expression of sodium channel types in pyramidal neurons in the CA2/CA3 region

N • axonal conductance was normal in the PNS

seizures ( J:90136 )

• first observed around 10 days of age

• frequent spontaneous generalized seizures

abnormal nervous system morphology ( J:90136 )

• abnormal formation or maintenance of axo-glial junctions at the periphery of axon nodal gaps

abnormal axon morphology ( J:90136 )

• reduced number of mature nodes of Ranvier in the optic nerve

• abnormal formation or maintenance of axo-glial junctions at the periphery of axon nodal gaps

abnormal optic nerve morphology ( J:90136 )

• axon degeneration observed in the optic nerve

abnormal action potential ( J:90136 )

• the fastest components of the compound action potential were slowed (measured in the optic nerve)