Phenotypes Associated with This Genotype

Genotype
MGI:4397669

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

• ♀: 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