About   Help   FAQ
Kcnq1tm3Kpfe
Targeted Allele Detail
Summary
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
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)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
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)
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory