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Kcnc2tm1Rudy
Targeted Allele Detail
Summary
Symbol: Kcnc2tm1Rudy
Name: potassium voltage gated channel, Shaw-related subfamily, member 2; targeted mutation 1, Bernardo Rudy
MGI ID: MGI:2387957
Synonyms: Kv3.2 -
Gene: Kcnc2  Location: Chr10:112107026-112302929 bp, + strand  Genetic Position: Chr10, 60.3 cM
Alliance: Kcnc2tm1Rudy page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:66730
Parent Cell Line:  W9.5/W95 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA 3' portion of exon 1, encoding the tetramerization domain (T domain) involved in oligomerization of potassium voltage gated channel subunits, was replaced by a neomycin selection cassette inserted by homologous recombination. Neither transcript nor protein was detected by Northern and Western blot analyses of homozygous mutant mice. (J:66730)
Phenotypes
Key:
hm homozygous ht heterozygous tg involves transgenes phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
 
Phenotypes:
Affected Systems
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behavior/neurological
increased anxiety-related response
abnormal sleep pattern
seizures
increased susceptibility to pharmacologically induced seizures
myoclonus
tonic-clonic seizures
sporadic seizures
muscle
myoclonus
nervous system
seizures
increased susceptibility to pharmacologically induced seizures
myoclonus
tonic-clonic seizures
sporadic seizures
abnormal nervous system electrophysiology
abnormal action potential
abnormal afterhyperpolarization
abnormal brain wave pattern
View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Kcnc2 Mutation:  30 strains or lines available
References
Original:  J:66730 Lau D, et al., Impaired fast-spiking, suppressed cortical inhibition, and increased susceptibility to seizures in mice lacking kv3.2 K+ channel proteins. J Neurosci. 2000 Dec 15;20(24):9071-85
All:  8 reference(s)

Contributing Projects:
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
12/10/2024
MGI 6.24
The Jackson Laboratory

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