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| Nomenclature |
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Symbol:
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Kcnq1tm3Kpfe
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Name:
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potassium voltage-gated channel, subfamily Q, member 1;
targeted mutation 3, Karl Pfeifer
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MGI ID: |
MGI:3056651 |
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Synonyms: |
Kcnq1A340E |
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Gene:
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Kcnq1
Location:
Chr7:143107254-143427042 bp, + strand
Genetic Position: Chr7,
88.12 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:93197
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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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Mutation: | |
Single point mutation |
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Mutation details: A C to A transversion resulting in an amino acid change of A340E was introduced in exon 7 via homologous recombination. Northern analysis showed that RNA is expressed at wild-type levels. Sequencing of amplified cDNA confirmed presence of the mutation. (J:93197)
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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 Kcnq1 Mutation:
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12 strains or lines available |
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| References |
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Original: |
J:93197
Casimiro MC et al.,
"Targeted point mutagenesis of mouse Kcnq1: phenotypic analysis of mice with point mutations that cause Romano-Ward syndrome in humans."
Genomics 2004 Sep;84(3):555-64
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All: |
2 reference(s)
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Analysis Tools
