Summary | Mutation origin | Mutation description | Phenotypes | Disease models | Find Mice (IMSR) | References

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 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)

View phenotypes and curated references for all genotypes (concatenated display).

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)