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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Kcnq2tm1Hsa
targeted mutation 1, Hitoshi Sasai
MGI:2386963
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Kcnq2tm1Hsa/Kcnq2tm1Hsa involves: 129P2/OlaHsd * C57BL/6 MGI:2672849
ht2
Kcnq2tm1Hsa/Kcnq2+ involves: 129P2/OlaHsd * C57BL/6 MGI:2672848


Genotype
MGI:2672849
hm1
Allelic
Composition
Kcnq2tm1Hsa/Kcnq2tm1Hsa
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 (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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
• 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
N
• homozygous null mice displayed no abnormalities in brain development or in electrocardiograms
• in addition, mutant pups exhibited no signs of seizure or other physical manifestations while they were alive




Genotype
MGI:2672848
ht2
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 (47 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
DO ID OMIM ID(s) Ref(s)
benign neonatal seizures DOID:14264 OMIM:121200
OMIM:121201
OMIM:269720
J:62797





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory