Kcnq1^tm1Apf
Targeted Allele Detail

Summary

• Symbol: Kcnq1^tm1Apf
• Name: potassium voltage-gated channel, subfamily Q, member 1; targeted mutation 1, Andrew P Feinberg
• MGI ID: MGI:1931858
• Synonyms: Kvlqt1-
• Gene: Kcnq1 Location: Chr7:142660614-142980787 bp, + strand Genetic Position: Chr7, 88.12 cM
• Alliance: Kcnq1^tm1Apf page

Cochlear abnormalities in Kcnq1^tm1Apf/Kcnq1^tm1Apf mice

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:66428
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: Insertion of a neomycin resistance cassette into exon 1 disrupted the gene. The authors predict that all isoforms of the protein would be inactivated in homozygous mutant animals. RT-PCR did not detect expression of the tanscript in tissues of homozygous mice. (J:66428)

Disease models

Expression

In Structures Affected by this Mutation:

15 anatomical structure(s)

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: 42 strains or lines available

References

• Original: J:66428 Lee MP, et al., Targeted disruption of the kvlqt1 gene causes deafness and gastric hyperplasia in mice. J Clin Invest. 2000 Dec;106(12):1447-55
• All: 3 reference(s)