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Targeted Allele Detail
Symbol: Kcnq1tm3Kpfe
Name: potassium voltage-gated channel, subfamily Q, member 1; targeted mutation 3, Karl Pfeifer
MGI ID: MGI:3056651
Synonyms: Kcnq1A340E
Gene: Kcnq1  Location: Chr7:142660614-142980787 bp, + strand  Genetic Position: Chr7, 88.12 cM
Alliance: Kcnq1tm3Kpfe page
Germline Transmission:  Earliest citation of germline transmission: J:93197
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Dominant negative, Humanized sequence)
Mutation:    Single point mutation
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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 Kcnq1 Mutation:  42 strains or lines available
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
All:  3 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
MGI 6.13
The Jackson Laboratory