Phenotypes associated with this allele

• Allele Symbol: Szt1
• Allele Name: seizure threshold 1
• Allele ID: MGI:2656387
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Szt1/Szt1	involves: BALB/cByJ * BALB/cJ * C57BL/6J	MGI:2660900
ht2	Szt1/Szt1^+	C57BL/6J-Szt1	MGI:3797754
ht3	Szt1/Szt1^+	involves: BALB/cByJ * BALB/cJ * C57BL/6J	MGI:2660901
cx4	Szt1/Szt1^+ Tg(Eno2-Scn2a1*)Q54Mm/0	involves: C57BL/6J * SJL/J	MGI:3797755

Genotype
MGI:2660900

hm1

• Allelic Composition: Szt1/Szt1
• Genetic Background: involves: BALB/cByJ * BALB/cJ * C57BL/6J

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

mortality/aging

neonatal lethality, complete penetrance ( J:82964 )

• mice die approximately 12 hrs after birth of apparent pulmonary atelectasi

respiratory system

atelectasis ( J:82964 )

• mice die approximately 12 hrs after birth of apparent pulmonary atelectasis

Genotype
MGI:3797754

ht2

• Allelic Composition: Szt1/Szt1⁺
• Genetic Background: C57BL/6J-Szt1

behavior/neurological

abnormal seizure response to electrical stimulation ( J:136510 )

• mice exhibit electrically induced seizures

• however, mice do not exhibit spontaneous seizures

nervous system

nervous system phenotype ( J:136510 )

N • mice exhibit normal nervous system morphology

abnormal seizure response to electrical stimulation ( J:136510 )

• mice exhibit electrically induced seizures

• however, mice do not exhibit spontaneous seizures

Genotype
MGI:2660901

ht3

• Allelic Composition: Szt1/Szt1⁺
• Genetic Background: involves: BALB/cByJ * BALB/cJ * C57BL/6J

behavior/neurological

abnormal seizure response to pharmacological agent ( J:82964 )

• low thresholds for PTZ induced tonic-clonic seizures

abnormal seizure response to electrical stimulation ( J:82964 )

• low thresholds for minimal electroconvulsive induced tonic-clonic seizures

growth/size/body

decreased body weight ( J:82964 )

• heterozygotes weighed 4-8% less than wild-type littermates

decreased body length ( J:82964 )

• measurements showed heterozygotes were 3-5% shorter than wild-type controls

nervous system

abnormal seizure response to pharmacological agent ( J:82964 )

• low thresholds for PTZ induced tonic-clonic seizures

abnormal seizure response to electrical stimulation ( J:82964 )

• low thresholds for minimal electroconvulsive induced tonic-clonic seizures

abnormal hippocampus CA3 region morphology ( J:82964 )

• gross examination revealed a malformed CA3 region between the two dentate gyrus blades

decreased hippocampus pyramidal cell number ( J:82964 )

• hippocampus contained ~40% fewer pyramidal neurons

Genotype
MGI:3797755

cx4

• Allelic Composition: Szt1/Szt1⁺; Tg(Eno2-Scn2a1*)Q54Mm/0
• Genetic Background: involves: C57BL/6J * SJL/J

mortality/aging

premature death ( J:136510 )

• mice do not survive beyond 6 months of age

postnatal lethality ( J:136510 )

• lethality associated with seizures is greater than 90%

behavior/neurological

seizures ( J:136510 )

• mice exhibit spontaneous seizures beginning at 12 days of age

tonic-clonic seizures ( J:136510 )

• mice exhibit prolonged general tonic-clonic seizures

nervous system

seizures ( J:136510 )

• mice exhibit spontaneous seizures beginning at 12 days of age

tonic-clonic seizures ( J:136510 )

• mice exhibit prolonged general tonic-clonic seizures

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
epilepsy		DOID:1826		J:136510