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Phenotypes Associated with This Genotype
Genotype
MGI:2672848
Allelic
Composition
Kcnq2tm1Hsa/Kcnq2+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnq2tm1Hsa mutation (0 available); any Kcnq2 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• mice were behaviorally indistinguishable from wild-type littermates and do not appear to display epileptic behaviors
• 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
• 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
N
• mice are fertile

Mouse Models of Human Disease
OMIM ID Ref(s)
Seizures, Benign Familial Neonatal, 1; BFNS1 121200 J:62797


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory