Kcnq1^tm1Kpfe
Targeted Allele Detail

Summary

• Symbol: Kcnq1^tm1Kpfe
• 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: Kcnq1^tm1Kpfe page

Histological analysis of inner ear structures of wild-type and Kcnq1^tm1Kpfe/Kcnq1^tm1Kpfe mice.

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• 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⁺

Mutation description

• 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)

Disease models

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Kcnq1^tm1Kpfe

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: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)