All Phenotypes Kcnq2<tm1.1Naas> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Kcnq2^tm1.1Naas
targeted mutation 1.1, Nanda A Singh
MGI:4397592

Summary

4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kcnq2^tm1.1Naas/Kcnq2^tm1.1Naas	B6.129-Kcnq2^tm1.1Naas	MGI:4397671
hm2	Kcnq2^tm1.1Naas/Kcnq2^tm1.1Naas	FVB.129-Kcnq2^tm1.1Naas	MGI:4397672
hm3	Kcnq2^tm1.1Naas/Kcnq2^tm1.1Naas	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4397669
ht4	Kcnq2^tm1.1Naas/Kcnq2⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4397670

Allelic Composition	Kcnq2^tm1.1Naas/Kcnq2^tm1.1Naas
Genetic Background	B6.129-Kcnq2^tm1.1Naas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnq2^tm1.1Naas mutation (0 available); any Kcnq2 mutation (50 available)

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

mortality/aging

premature death ( J:154582 )

• some mice die between P23 and P32

neonatal lethality, incomplete penetrance ( J:154582 )

• some mice die at P0

nervous system

tonic-clonic seizures ( J:154582 )

• between P24 and P52, mice exhibit at least one tonic-clonic seizure of the fore- or hindlimbs unlike wild-type mice

growth/size/body

decreased body size ( J:154582 )

• at weaning, mice are 22% to 46% smaller than wild-type mice

behavior/neurological

tonic-clonic seizures ( J:154582 )

• between P24 and P52, mice exhibit at least one tonic-clonic seizure of the fore- or hindlimbs unlike 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^tm1.1Naas/Kcnq2^tm1.1Naas
Genetic Background	FVB.129-Kcnq2^tm1.1Naas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnq2^tm1.1Naas mutation (0 available); any Kcnq2 mutation (50 available)

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

mortality/aging

premature death ( J:154582 )

• most mice die between P16 and P30

postnatal lethality, incomplete penetrance ( J:154582 )

• most mice die between P16 and P30

prenatal lethality, incomplete penetrance ( J:154582 )

• fewer than expected mice were born

nervous system

seizures ( J:154582 )

• mice exhibit rapid onset of spontaneous seizures that result in death

growth/size/body

decreased body size ( J:154582 )

behavior/neurological

seizures ( J:154582 )

• mice exhibit rapid onset of spontaneous seizures that result in death

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^tm1.1Naas/Kcnq2^tm1.1Naas
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 (50 available)

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:154582 )

• fewer than expected mice were born

nervous system

seizures ( J:154582 )

• mice exhibit spontaneous seizures with frequent generalized interictal cortical discharges, forepaw grooming, and clonic twitching unlike wild-type mice

abnormal neuron physiology ( J:154582 )

• CA1 neurons exhibit decreased M-type potassium ion current amplitude and density compared with wild-type neurons

behavior/neurological

seizures ( J:154582 )

• mice exhibit spontaneous seizures with frequent generalized interictal cortical discharges, forepaw grooming, and clonic twitching unlike 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^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 (50 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

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