Phenotypes Associated with This Genotype

Genotype
MGI:6488175

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

• ♀: 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