All Phenotypes Kcnq2<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Kcnq2⁺
wild type
MGI:2436030

Summary

11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Kcnq2^tm1.1Lvi/Kcnq2⁺	129-Kcnq2^tm1.1Lvi/Lvi	MGI:6488175
ht2	Kcnq2^tm1Dgen/Kcnq2⁺	B6.129P2-Kcnq2^tm1Dgen/J	MGI:4818911
ht3	Kcnq2^tm2.1Snhr/Kcnq2⁺	B6.Cg-Kcnq2^tm2.1Snhr	MGI:5703897
ht4	Kcnq2^tm3.1Snhr/Kcnq2⁺	B6.Cg-Kcnq2^tm3.1Snhr	MGI:5703900
ht5	Kcnq2^Nmf134/Kcnq2⁺	C57BL/6J-Kcnq2^Nmf134	MGI:3797752
ht6	Kcnq2^Nmf134/Kcnq2⁺	C57BL/6J-Kcnq2^Nmf134/J	MGI:2664162
ht7	Kcnq2^tm1Dgen/Kcnq2⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:3606653
ht8	Kcnq2^tm1Hsa/Kcnq2⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:2672848
ht9	Kcnq2^tm1.1Naas/Kcnq2⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4397670
cx10	Kcnq2^Nmf134/Kcnq2⁺ Scn1a^tm1.1Aesc/Scn1a⁺	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J	MGI:4950073
cx11	Kcnq2^Nmf134/Kcnq2⁺ Tg(Eno2-Scn2a1*)Q54Mm/0	involves: C57BL/6J * SJL/J	MGI:3797751

Allelic Composition	Kcnq2^tm1.1Lvi/Kcnq2⁺
Genetic Background	129-Kcnq2^tm1.1Lvi/Lvi

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnq2^tm1.1Lvi mutation (0 available); any Kcnq2 mutation (48 available)

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

mortality/aging

premature death ( J:298666 )

• approximately 25% of mice before 4 months of age, with a peak mortality around P100

• the half-life of the population is P221 compared to P425 for wild-type mice

• in a period of 2 years of breeding, spontaneous death is seen in 91% of mice

• death can be prevented by immediate stimulation of forelimbs and hindlimbs following occurrence of generalized seizures

behavior/neurological

behavior/neurological phenotype ( J:298666 )

N	• mice exhibit normal early sensorimotor development (righting, grasping, cliff avoidance, paw placing, geotaxis, auditory and visual onset, hindlimbs crossed extension and rooting response), paw coordination, and breathing pattern and do not display enhanced stereotypies or anxiety

decreased exploration in new environment ( J:298666 )

• mice exhibit fewer head dips in the Hole Board task indicating they explore less than wild-type mice

impaired spatial learning ( J:298666 )

• males take longer to reach the platform in the Morris water maze indicating a learning deficit

• males take more time to enter the shelter and display increased errors before entering the shelter in the Barnes water maze

• however, mice perform normally in the visible platform version of the Morris water maze

tonic-clonic seizures ( J:298666 )

• mice exhibit spontaneous generalized tonic-clonic seizure, first observed between P20 and P30

• epileptic seizures are generally not seen when mice get older

growth/size/body

megacephaly ( J:298666 )

• moderate macrocephaly is seen in males at 15 weeks of age

• total brain area and height along the dorsoventral axis is larger by a minimum of 4% in males at 15 weeks of age

• however, no differences in global volume of the hippocampus, cornus amoni, or dentate gyrus areas are seen

• however, female brains show little variation from wild-type mice

nervous system

tonic-clonic seizures ( J:298666 )

• mice exhibit spontaneous generalized tonic-clonic seizure, first observed between P20 and P30

• epileptic seizures are generally not seen when mice get older

increased corpus callosum size ( J:298666 )

• corpus callosum area is larger by 8% in males at 15 weeks of age

increased superior colliculus size ( J:298666 )

• the superior colliculus is larger by 12% in males at 15 weeks of age

abnormal primary motor cortex morphology ( J:298666 )

• thickness of the motor cortex is larger at P14 but the motor cortex is smaller at P30

abnormal somatosensory cortex morphology ( J:298666 )

• somatosensory cortex is smaller at P30

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
developmental and epileptic encephalopathy 7		DOID:0080462	OMIM:613720	J:298666

Allelic Composition	Kcnq2^tm1Dgen/Kcnq2⁺
Genetic Background	B6.129P2-Kcnq2^tm1Dgen/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnq2^tm1Dgen mutation (1 available); any Kcnq2 mutation (48 available)

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

nervous system

decreased prepulse inhibition ( J:161844 )

• at the 78, 86, and 90 dB prepulse levels

• however, in the absence of a prepulse acoustic startle responses are normal

Allelic Composition	Kcnq2^tm2.1Snhr/Kcnq2⁺
Genetic Background	B6.Cg-Kcnq2^tm2.1Snhr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnq2^tm2.1Snhr mutation (0 available); any Kcnq2 mutation (48 available)

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

behavior/neurological

clonic seizures ( J:213443 )

• high cFos expression in the dorsal hippocampus suggestive of early un-noticed seizure activity

• increased seizure severity compared to controls after PTZ injection

nervous system

clonic seizures ( J:213443 )

• high cFos expression in the dorsal hippocampus suggestive of early un-noticed seizure activity

• increased seizure severity compared to controls after PTZ injection

abnormal nervous system electrophysiology ( J:213443 )

• at 10 weeks a significant M current reduction is seen at higher depolarizing potentials

Allelic Composition	Kcnq2^tm3.1Snhr/Kcnq2⁺
Genetic Background	B6.Cg-Kcnq2^tm3.1Snhr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnq2^tm3.1Snhr mutation (0 available); any Kcnq2 mutation (48 available)

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

behavior/neurological

clonic seizures ( J:213443 )

• increased seizure severity compared to controls after PTZ injection

nervous system

clonic seizures ( J:213443 )

• increased seizure severity compared to controls after PTZ injection

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnq2^Nmf134 mutation (1 available); any Kcnq2 mutation (48 available)

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

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnq2^Nmf134 mutation (1 available); any Kcnq2 mutation (48 available)

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

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 )

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

Allelic Composition	Kcnq2^tm1Dgen/Kcnq2⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnq2^tm1Dgen mutation (1 available); any Kcnq2 mutation (48 available)

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

behavior/neurological

increased susceptibility to pharmacologically induced seizures ( J:101679 )

• heterozygotes require a lower dose of metrazol to induce various seizure stages compared to wild-type mice

nervous system

increased susceptibility to pharmacologically induced seizures ( J:101679 )

• heterozygotes require a lower dose of metrazol to induce various seizure stages compared to wild-type mice

Allelic Composition	Kcnq2^tm1Hsa/Kcnq2⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnq2^tm1Hsa mutation (0 available); any Kcnq2 mutation (48 available)

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

behavior/neurological

behavior/neurological phenotype ( J:62797 )

N	• mice were behaviorally indistinguishable from wild-type littermates and do not appear to display epileptic behaviors

increased susceptibility to pharmacologically induced seizures ( J:62797 )

• at approximately 3 weeks of age, analysis of basal electroencephalograph recordings indicated no differences between wild-type and heterozygous null mice: pentylenetetrazole (PTZ) induced seizures in both genotypes, resulting in several presageful sharp waves followed by an explosion of seizures

• the PTZ-induced seizure was a generalized seizure, which simultaneously occurred in all regions of the cerebrum in both wild-type and heterozygous null mice

• however, wild-type mice required a greater number of PTZ injections to induce seizures than heterozygous null mice, suggesting that young heterozygotess are hypersensitive to PTZ-induced seizures

nervous system

increased susceptibility to pharmacologically induced seizures ( J:62797 )

• the PTZ-induced seizure was a generalized seizure, which simultaneously occurred in all regions of the cerebrum in both wild-type and heterozygous null mice

• however, wild-type mice required a greater number of PTZ injections to induce seizures than heterozygous null mice, suggesting that young heterozygotess are hypersensitive to PTZ-induced seizures

reproductive system

reproductive system phenotype ( J:62797 )

N	• mice are fertile

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
benign neonatal seizures		DOID:14264	OMIM:121200 OMIM:121201 OMIM:269720	J:62797

Allelic Composition	Kcnq2^tm1.1Naas/Kcnq2⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnq2^tm1.1Naas mutation (0 available); any Kcnq2 mutation (48 available)

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

behavior/neurological

abnormal seizure response to electrical stimulation ( J:154582 )

• mice exhibit decreased threshold to convulsive current at which 50% of mice exhibit tonic hindlimb extension seizure compared with wild-type mice

nervous system

abnormal seizure response to electrical stimulation ( J:154582 )

• mice exhibit decreased threshold to convulsive current at which 50% of mice exhibit tonic hindlimb extension seizure compared with wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
benign neonatal seizures		DOID:14264	OMIM:121200 OMIM:121201 OMIM:269720	J:154582

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnq2^Nmf134 mutation (1 available); any Kcnq2 mutation (48 available)
Scn1a^tm1.1Aesc mutation (0 available); any Scn1a mutation (112 available)

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

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

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 (48 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

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