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| Nomenclature |
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Symbol:
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Kcnq2tm1.1Naas
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Name:
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potassium voltage-gated channel, subfamily Q, member 2;
targeted mutation 1.1, Nanda A Singh
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MGI ID: |
MGI:4397592 |
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Synonyms: |
Kcnq2A306T |
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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:154582
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: A self-excising neo cassette was inserted upsteam of a modified exon 6 containing nucleotide substitutions that result in the amino acid substitution of threonine for alanine at position 306 (A306T). The neo cassette subsequently removes itself leaving a single loxP site. (J:154582)
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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:154582
Singh NA et al.,
"Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization."
J Physiol 2008 Jul 15;586(14):3405-23
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All: |
1 reference(s)
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Analysis Tools
