Phenotypes associated with this allele

• Allele Symbol: Scn1a^em1Anord
• Allele Name: endonuclease-mediated mutation 1, Alexander S Nord
• Allele ID: MGI:7437626
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scn1a^em1Anord/Scn1a^em1Anord	C57BL/6N-Scn1a^em1Anord	MGI:7437725
ht2	Scn1a^em1Anord/Scn1a^+	C57BL/6N-Scn1a^em1Anord	MGI:7437726

Genotype
MGI:7437725

hm1

• Allelic Composition: Scn1a^em1Anord/Scn1a^em1Anord
• Genetic Background: C57BL/6N-Scn1a^em1Anord

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

behavior/neurological

behavior/neurological phenotype ( J:333350 )

N • normal reflexes

abnormal spatial working memory ( J:333350 )

• lower percentage of spontaneous alternation in Y-maze test

abnormal response to novel object ( J:333350 )

• no preference for novel object in novel object recognition test

hyperactivity ( J:333350 )

• increased total activity in open field test

environmentally induced seizures ( J:333350 )

• spontaneous seizures when handled

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:333350 )

• few mice born

• surviving litters show normal Mendelian ratios

neonatal lethality ( J:333350 )

• increased cannibalization of newborns

preweaning lethality, incomplete penetrance ( J:333350 )

• 48% of mice die before weaning

growth/size/body

decreased birth body size ( J:333350 )

postnatal growth retardation ( J:333350 )

• failure to thrive

muscle

muscle phenotype ( J:333350 )

N • normal limb strength

nervous system

environmentally induced seizures ( J:333350 )

• spontaneous seizures when handled

Genotype
MGI:7437726

ht2

• Allelic Composition: Scn1a^em1Anord/Scn1a⁺
• Genetic Background: C57BL/6N-Scn1a^em1Anord

behavior/neurological

behavior/neurological phenotype ( J:333350 )

N • normal reflexes

N • normal preference for novel object in novel object recognition test

N • normal behavior in Y-maze test

increased susceptibility to pharmacologically induced seizures ( J:333350 )

• shortened latencies to first jerk, loss of righting, generalized clonic-tonic seizure, and full tonic extension after administration of chemoconvulsant pentylenetetrazole (PTZ)

• shorter latency to death after administration of chemoconvulsant pentylenetetrazole (PTZ)

environmentally induced seizures ( J:333350 )

• heat-induced behavioral seizures when body temperature gradually raised to 42.5C

abnormal spike wave discharge ( J:333350 )

• spontaneous spiking events and spike trains

• significantly higher spiking activity

• increased power spectral density

growth/size/body

growth/size/body region phenotype ( J:333350 )

N • normal growth

nervous system

increased susceptibility to pharmacologically induced seizures ( J:333350 )

• shortened latencies to first jerk, loss of righting, generalized clonic-tonic seizure, and full tonic extension after administration of chemoconvulsant pentylenetetrazole (PTZ)

• shorter latency to death after administration of chemoconvulsant pentylenetetrazole (PTZ)

environmentally induced seizures ( J:333350 )

• heat-induced behavioral seizures when body temperature gradually raised to 42.5C

abnormal spike wave discharge ( J:333350 )

• spontaneous spiking events and spike trains

• significantly higher spiking activity

• increased power spectral density