Kcnq2<Nmf134> Chemically induced Allele Detail MGI Mouse (MGI:2661797)

Kcnq2^Nmf134
Chemically induced Allele Detail

Nomenclature

Symbol:	Kcnq2^Nmf134
Name:	potassium voltage-gated channel, subfamily Q, member 2; neuroscience mutagenesis facility, 134
MGI ID:	MGI:2661797
Synonyms:	Kcnq2^V182M
Gene:	Kcnq2 Location: Chr2:180810284-180869959 bp, - strand Genetic Position: Chr2, 104.0 cM, cytoband H3-4

Mutation
origin

Strain of Origin:

C57BL/6J

Mutation
description

Allele Type:	Chemically induced (ENU)
Mutation:	Single point mutation
	A G-to-T transversion mutation in codon 182 results in the substitution of methionine for valine at this highly conserved position in the encoded protein. (J:136510)
Inheritance:	Semidominant

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 2 strains available Cell Lines: 0 lines available
Carrying any Kcnq2 Mutation:	6 strains or lines available

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	hm1	ht2	ht3	tg4
behavior/neurological		√	√	√	√
seizures					√
abnormal seizure response to electrical stimulation		√	√	√
increased susceptibility to pharmacologically induced seizures				√
tonic-clonic seizures					√
		hm1	ht2	ht3	tg4
lethality/postnatal					√
postnatal lethality					√
		hm1	ht2	ht3	tg4
life span/aging					√
premature death					√
		hm1	ht2	ht3	tg4
nervous system		√	√	√	√
nervous system phenotype				N
seizures					√
abnormal seizure response to electrical stimulation		√	√	√
increased susceptibility to pharmacologically induced seizures				√
tonic-clonic seizures					√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	Kcnq2^Nmf134/Kcnq2^Nmf134	C57BL/6J
behavior/neurological abnormal seizure response to electrical stimulation (J:82238) mice have a low threshold to electroconvulsive clonic seizures. i.e. when stimulated transcorneally for minimal seizures, mice respond not with minimal, but with intense seizure nervous system abnormal seizure response to electrical stimulation (J:82238) mice have a low threshold to electroconvulsive clonic seizures. i.e. when stimulated transcorneally for minimal seizures, mice respond not with minimal, but with intense seizure
Genotype	Allelic Composition	Genetic Background
ht2	Kcnq2^Nmf134/Kcnq2⁺	C57BL/6J
behavior/neurological abnormal seizure response to electrical stimulation (J:82238) mutants appear to have a low threshold to electroconvulsive clonic seizures. i.e. when stimulated transcorneally for minimal seizures, the majority of mice respond not with minimal, but with intense seizure rearing, forelimb clonus and jaw clonus, and/or tonic hind limb extension defined the intensity of the seizure as high nervous system abnormal seizure response to electrical stimulation (J:82238) mutants appear to have a low threshold to electroconvulsive clonic seizures. i.e. when stimulated transcorneally for minimal seizures, the majority of mice respond not with minimal, but with intense seizure rearing, forelimb clonus and jaw clonus, and/or tonic hind limb extension defined the intensity of the seizure as high
Genotype	Allelic Composition	Genetic Background
ht3	Kcnq2^Nmf134/Kcnq2⁺	C57BL/6J-Kcnq2^Nmf134
behavior/neurological increased susceptibility to pharmacologically induced seizures (J:136510) mice exhibit a reduced threshold to seizures induced by petylenetetrazol compared to wild-type mice however, mice do not exhibit spontaneous seizures abnormal seizure response to electrical stimulation (J:136510) mice exhibit electrically induced seizures however, mice do not exhibit spontaneous seizures nervous system nervous system phenotype (J:136510) mice exhibit normal nervous system morphology increased susceptibility to pharmacologically induced seizures (J:136510) mice exhibit a reduced threshold to seizures induced by petylenetetrazol compared to wild-type mice however, mice do not exhibit spontaneous seizures abnormal seizure response to electrical stimulation (J:136510) mice exhibit electrically induced seizures however, mice do not exhibit spontaneous seizures
Genotype	Allelic Composition	Genetic Background
tg4	Kcnq2^Nmf134/Kcnq2⁺ Tg(Eno2-Scn2a1*)Q54Mm/0	involves: C57BL/6J * SJL/J
lethality/postnatal postnatal lethality (J:136510) lethality associated with seizures is greater than 90% life span/aging premature death (J:136510) mice do not survive beyond 6 months of age behavior/neurological seizures (J:136510) mice exhibit a seizure phenotype that is more severe than in either heterozygote alone with seizures beginning at day 12 and resulting in greater than 90% lethality by 3 weeks of age tonic-clonic seizures (J:136510) mice exhibit prolonged general tonic-clonic seizures nervous system seizures (J:136510) mice exhibit a seizure phenotype that is more severe than in either heterozygote alone with seizures beginning at day 12 and resulting in greater than 90% lethality by 3 weeks of age tonic-clonic seizures (J:136510) mice exhibit prolonged general tonic-clonic seizures

References

Original:	J:82238 JAX Neuroscience Mutagenesis Facility URL: http://www.jax.org/nmf, "Heritable mouse mutants from JAX NMF ENU Mutagenesis Program" MGI Direct Data Submission 2003;():
All:	2 reference(s)

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