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

Symbol: Kcnq1tm1Kpfe Name: potassium voltage-gated channel, subfamily Q, member 1; targeted mutation 1, Karl Pfeifer MGI ID: MGI:2680653 Synonyms: Kcnq1- Gene: Kcnq1  Location: Chr7:142660614-142980787 bp, + strand  Genetic Position: Chr7, 88.12 cM Alliance: Kcnq1tm1Kpfe page

Histological analysis of inner ear structures of wild-type and Kcnq1tm1Kpfe/Kcnq1tm1Kpfe mice. Show the 1 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:67873
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   Mutation details: Insertion of a neomycin resistance cassette into exon 2 disrupted the Kcnq1 gene. Northern blot analysis demonstrated that no detectable transcript was expressed in hearts of homozygous mice. (J:67873)

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

In Structures Affected by this Mutation:

7 anatomical structure(s)

List all tumor models in MMHCdb carrying Kcnq1tm1Kpfe

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:67873 Casimiro MC, et al., Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome. Proc Natl Acad Sci U S A. 2001 Feb 27;98(5):2526-31
All:	14 reference(s)