Phenotypes associated with this allele

• Allele Symbol: Kcnq2^Nmf134
• Allele Name: neuroscience mutagenesis facility, 134
• Allele ID: MGI:2661797
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kcnq2^Nmf134/Kcnq2^Nmf134	C57BL/6J-Kcnq2^Nmf134/J	MGI:2661800
ht2	Kcnq2^Nmf134/Kcnq2^+	C57BL/6J-Kcnq2^Nmf134	MGI:3797752
ht3	Kcnq2^Nmf134/Kcnq2^+	C57BL/6J-Kcnq2^Nmf134/J	MGI:2664162
cx4	Kcnq2^Nmf134/Kcnq2^+ Scn1a^tm1.1Aesc/Scn1a^+	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J	MGI:4950073
cx5	Kcnq2^Nmf134/Kcnq2^+ Tg(Eno2-Scn2a1*)Q54Mm/0	involves: C57BL/6J * SJL/J	MGI:3797751

Genotype
MGI:2661800

hm1

• Allelic Composition: Kcnq2^Nmf134/Kcnq2^Nmf134
• Genetic Background: C57BL/6J-Kcnq2^Nmf134/J

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

behavior/neurological

abnormal seizure response to electrical stimulation ( J:82238 )

• mice have a low threshold to electroconvulsive clonic seizures. i.e. when stimulated transcorneally for minimal seizures, mice respond not with minimal, but with intense seizure

nervous system

abnormal seizure response to electrical stimulation ( J:82238 )

• mice have a low threshold to electroconvulsive clonic seizures. i.e. when stimulated transcorneally for minimal seizures, mice respond not with minimal, but with intense seizure

Genotype
MGI:3797752

ht2

• Allelic Composition: Kcnq2^Nmf134/Kcnq2⁺
• Genetic Background: C57BL/6J-Kcnq2^Nmf134

behavior/neurological

increased susceptibility to pharmacologically induced seizures ( J:136510 )

• mice exhibit a reduced threshold to seizures induced by petylenetetrazol compared to wild-type mice

• however, mice do not exhibit spontaneous seizures

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

increased susceptibility to pharmacologically induced seizures ( J:136510 )

• mice exhibit a reduced threshold to seizures induced by petylenetetrazol compared to wild-type mice

• however, mice do not exhibit spontaneous seizures

abnormal seizure response to electrical stimulation ( J:136510 )

• mice exhibit electrically induced seizures

• however, mice do not exhibit spontaneous seizures

Genotype
MGI:2664162

ht3

• Allelic Composition: Kcnq2^Nmf134/Kcnq2⁺
• Genetic Background: C57BL/6J-Kcnq2^Nmf134/J

behavior/neurological

abnormal seizure response to electrical stimulation ( J:82238 )

• mutants appear to have a low threshold to electroconvulsive clonic seizures. i.e. when stimulated transcorneally for minimal seizures, the majority of mice respond not with minimal, but with intense seizure

• rearing, forelimb clonus and jaw clonus, and/or tonic hind limb extension defined the intensity of the seizure as high

nervous system

abnormal seizure response to electrical stimulation ( J:82238 )

• mutants appear to have a low threshold to electroconvulsive clonic seizures. i.e. when stimulated transcorneally for minimal seizures, the majority of mice respond not with minimal, but with intense seizure

• rearing, forelimb clonus and jaw clonus, and/or tonic hind limb extension defined the intensity of the seizure as high

Genotype
MGI:4950073

cx4

• Allelic Composition: Kcnq2^Nmf134/Kcnq2⁺; Scn1a^tm1.1Aesc/Scn1a⁺
• Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J

behavior/neurological

convulsive seizures ( J:170734 )

• mutants begin to display spontaneous generalized seizures starting at P16, most being myoclonic jerks, a few generalized tonic-clonic seizures, and one mouse showing partial motor seizure

• generalized seizures are periodically followed by tonic extension of the hindlimbs

tonic-clonic seizures ( J:170734 )

• mutants show a few generalized tonic-clonic seizures

mortality/aging

decreased survivor rate ( J:170734 )

• 47% of mutants survive for more than 100 days

postnatal lethality, incomplete penetrance ( J:170734 )

• sporadic death begins to occur at P19, with 42% mortality by P25

nervous system

convulsive seizures ( J:170734 )

• mutants begin to display spontaneous generalized seizures starting at P16, most being myoclonic jerks, a few generalized tonic-clonic seizures, and one mouse showing partial motor seizure

• generalized seizures are periodically followed by tonic extension of the hindlimbs

tonic-clonic seizures ( J:170734 )

• mutants show a few generalized tonic-clonic seizures

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

Genotype
MGI:3797751

cx5

• Allelic Composition: Kcnq2^Nmf134/Kcnq2⁺; 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 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