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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Szt1
seizure threshold 1
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
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Szt1 mutation (1 available); any Szt1 mutation (1 available)
♀ 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
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Szt1 mutation (1 available); any Szt1 mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Szt1 mutation (1 available); any Szt1 mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Szt1 mutation (1 available); any Szt1 mutation (1 available)
Tg(Eno2-Scn2a1*)Q54Mm mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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




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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory