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Kcnq1tm2Kpfe
Targeted Allele Detail
Summary
Symbol: Kcnq1tm2Kpfe
Name: potassium voltage-gated channel, subfamily Q, member 1; targeted mutation 2, Karl Pfeifer
MGI ID: MGI:3056648
Synonyms: Kcnq1T311I
Gene: Kcnq1  Location: Chr7:142660614-142980787 bp, + strand  Genetic Position: Chr7, 88.12 cM
Alliance: Kcnq1tm2Kpfe 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 (Null/knockout)
Mutation:    Single point mutation
 
Mutation detailsA C to T transition resulting in an amino acid change of T311I 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
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structures
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:  35 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:  2 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
11/26/2022
MGI 6.22
The Jackson Laboratory