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| Nomenclature |
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Symbol:
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Kcnq2tm1Hsa
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Name:
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potassium voltage-gated channel, subfamily Q, member 2;
targeted mutation 1, Hitoshi Sasai
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MGI ID: |
MGI:2386963 |
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Synonyms: |
KCNQ2 - |
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Gene:
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Kcnq2
Location:
Chr2:181075579-181135291 bp, - strand
Genetic Position: Chr2,
103.57 cM, cytoband H3-4
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:62797
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Parent Cell Line:
| E14.1 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exons 3 through 5 were replaced by a neomycin selection cassette. The deleted region encompassed 429 bp encoding the second transmembrane domain and a portion of the pore region. While normal transcript was undetected by semi-quantitative RT-PCR analysis, low levels of an aberrant transcript in which exon 2 spliced to exon 6 were observed in homozygous mutant embryos. (J:62797)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Kcnq2 Mutation:
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10 strains or lines available |
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| References |
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Original: |
J:62797
Watanabe H et al.,
"Disruption of the epilepsy KCNQ2 gene results in neural hyperexcitability."
J Neurochem 2000 Jul;75(1):28-33
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All: |
1 reference(s)
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Analysis Tools
