All Phenotypes Szt1<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Szt1⁺
wild type
MGI:2656495

Summary

3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Szt1/Szt1⁺	C57BL/6J-Szt1	MGI:3797754
ht2	Szt1/Szt1⁺	involves: BALB/cByJ * BALB/cJ * C57BL/6J	MGI:2660901
cx3	Szt1/Szt1⁺ Tg(Eno2-Scn2a1*)Q54Mm/0	involves: C57BL/6J * SJL/J	MGI:3797755

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

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

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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