This strain is characterized by inner ear defects with a phenotype similar to shaker and waltzer. There is loss of hair cells and many supporting cells in the organ of Corti as well as in all vestibular end organs. The time course of hair cell degeneration is different for each portion of the inner ear. Heart abnormalities of homozygous mutant mice included a longer QT interval at slow heart rates, a paradoxical shorter QT interval at fast heart rates, and an overall exacerbated QT-heart rate adaptation compared with wild-type controls. This mutant serves as a model for Jervell and Lange-Nielsen disease in which patients suffer cardian arrhythmias and profound bilateral deafness.
A targeting vector was designed to replace exon 2 of the endogenous gene (exon 2 contains the full uninterrupted coding sequence) with a PGK promoter-driven neomyicin resistance gene. The construct was electroporated into 129S1/Sv-derived W9.5 embryonic stem (ES) cells. Properly selected ES cells were injected into C57BL/6J blastocysts and the resulting chimeric males bred to 129/Sv males.
|Allele Name||targeted mutation 1, Stephen F Heinemann|
|Allele Type||Targeted (Null/Knockout)|
|Allele Synonym(s)||isk-; KCNE1-|
|Gene Symbol and Name||Kcne1, potassium voltage-gated channel, Isk-related subfamily, member 1|
|Strain of Origin||129S1/Sv-Oca2+ Tyr+ Kitl+|
|Molecular Note||A neomycin resistance cassette replaced the entire coding region of the gene.|
|Mutations Made By|| |
Jacques Vetter, CNRS/The Salk Inst for Biol Studies
When maintaining a live colony, heterozygous siblings can be intercrossed to generate homozygotes/heterozygotes/wildtype. Expected coat color from breeding:White Bellied Agouti, Albino, Tan w/pink eyes
When using the isk- mouse strain in a publication, please cite the originating article(s) and include JAX stock #003009 in your Materials and Methods section.