Kcnq1^tm3Kpfe
Targeted Allele Detail

Summary

• Symbol: Kcnq1^tm3Kpfe
• Name: potassium voltage-gated channel, subfamily Q, member 1; targeted mutation 3, Karl Pfeifer
• MGI ID: MGI:3056651
• Synonyms: Kcnq1^A340E
• Gene: Kcnq1 Location: Chr7:142660614-142980787 bp, + strand Genetic Position: Chr7, 88.12 cM
• Alliance: Kcnq1^tm3Kpfe page

Mutation origin

• 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⁺

Mutation description

• Allele Type: Targeted (Dominant negative, Humanized sequence)
• Mutation: Single point mutation
• 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)

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: 43 strains or lines available

References

• 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)