All Phenotypes Tg(Eno2-Scn2a1*)Q54Mm MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Tg(Eno2-Scn2a1*)Q54Mm
transgene insertion Q54, Miriam Meisler
MGI:3793788

Summary

4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Scn1a^tm1.1Aesc/Scn1a⁺ Tg(Eno2-Scn2a1*)Q54Mm/0	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * SJL/J	MGI:4950072
cx2	Kcnq2^Nmf134/Kcnq2⁺ Tg(Eno2-Scn2a1*)Q54Mm/0	involves: C57BL/6J * SJL/J	MGI:3797751
cx3	Szt1/Szt1⁺ Tg(Eno2-Scn2a1*)Q54Mm/0	involves: C57BL/6J * SJL/J	MGI:3797755
tg4	Tg(Eno2-Scn2a1*)Q54Mm/0	B6.Cg-Tg(Eno2-Scn2a1*)Q54Mm	MGI:3797753

Allelic Composition	Scn1a^tm1.1Aesc/Scn1a⁺ Tg(Eno2-Scn2a1*)Q54Mm/0
Genetic Background	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * SJL/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn1a^tm1.1Aesc mutation (0 available); any Scn1a mutation (114 available)
Tg(Eno2-Scn2a1*)Q54Mm mutation (0 available)

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

behavior/neurological

convulsive seizures ( J:170734 )

• mutants begin to exhibit spontaneous partial motor seizures and generalized tonic-clonic seizures at P16

• general seizures last 45-100 seconds, during which time mice experience repetitive jerking of all four limbs and neck, running, and jumping, and tail clonus; seizures often end with tonic hindlimb extension, indicative of a severe seizure

tonic-clonic seizures ( J:170734 )

• mutants begin to exhibit generalized tonic-clonic seizures at P16

mortality/aging

postnatal lethality, complete penetrance ( J:170734 )

• sporadic death begins to occur at P16, with 100% mortality by P24

nervous system

convulsive seizures ( J:170734 )

• mutants begin to exhibit spontaneous partial motor seizures and generalized tonic-clonic seizures at P16

tonic-clonic seizures ( J:170734 )

• mutants begin to exhibit generalized tonic-clonic seizures at P16

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
generalized epilepsy with febrile seizures plus		DOID:0060170		J:170734

Allelic Composition	Kcnq2^Nmf134/Kcnq2⁺ Tg(Eno2-Scn2a1*)Q54Mm/0
Genetic Background	involves: C57BL/6J * SJL/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnq2^Nmf134 mutation (1 available); any Kcnq2 mutation (47 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 a seizure phenotype that is more severe than in either heterozygote alone with seizures beginning at day 12 and resulting in greater than 90% lethality by 3 weeks of age

tonic-clonic seizures ( J:136510 )

• mice exhibit prolonged general tonic-clonic seizures

nervous system

seizures ( J:136510 )

• mice exhibit a seizure phenotype that is more severe than in either heterozygote alone with seizures beginning at day 12 and resulting in greater than 90% lethality by 3 weeks 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

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

Allelic Composition	Tg(Eno2-Scn2a1*)Q54Mm/0
Genetic Background	B6.Cg-Tg(Eno2-Scn2a1*)Q54Mm

Find Mice

Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.

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

mortality/aging

premature death ( J:136510 )

• 25% of mice are dead by 6 months of age

behavior/neurological

seizures ( J:136510 )

• mice exhibit short partial seizures beginning at 2 months of age

convulsive seizures ( J:170734 )

• mutants exhibit partial motor seizures, however generalized tonic-clonic seizures are rare

nervous system

nervous system phenotype ( J:136510 )

N	• mice exhibit normal nervous system morphology

seizures ( J:136510 )

• mice exhibit short partial seizures beginning at 2 months of age

convulsive seizures ( J:170734 )

• mutants exhibit partial motor seizures, however generalized tonic-clonic seizures are rare

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

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