Phenotypes associated with this allele

• Allele Symbol: Kcnq2^tm1Hsa
• Allele Name: targeted mutation 1, Hitoshi Sasai
• Allele ID: MGI:2386963
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kcnq2^tm1Hsa/Kcnq2^tm1Hsa	involves: 129P2/OlaHsd * C57BL/6	MGI:2672849
ht2	Kcnq2^tm1Hsa/Kcnq2^+	involves: 129P2/OlaHsd * C57BL/6	MGI:2672848

Genotype
MGI:2672849

hm1

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

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

mortality/aging

neonatal lethality, complete penetrance ( J:62797 )

• homozygous null mice died within 1 day after birth; newborn pups appeared grossly normal, and some were able to survive for a few hours after birth

respiratory system

atelectasis ( J:62797 )

• pathological analysis revealed a decrease in alveolar expansion suggesting that homozygous null pups died of pulmonary atelectasis

• homozygous mutant pups exhibited modest or severe atelectasis and a thickened alveolar epithelial layer compared with normal alveoli maturation in wild-type pups

nervous system

nervous system phenotype ( J:62797 )

N • homozygous null mice displayed no abnormalities in brain development or in electrocardiograms

N • in addition, mutant pups exhibited no signs of seizure or other physical manifestations while they were alive

Genotype
MGI:2672848

ht2

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

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 )

• 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

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