Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Kcnq4tm1.2Tjj
Name:	potassium voltage-gated channel, subfamily Q, member 4; targeted mutation 1.2, Thomas J Jentsch
MGI ID:	MGI:3620085
Synonyms:	Kcnq4dn
Gene:	Kcnq4  Location: Chr4:120553331-120604687 bp, - strand  Genetic Position: Chr4, 56.52 cM
Alliance:	Kcnq4tm1.2Tjj page

Germline Transmission:	Earliest citation of germline transmission: J:105924
Parent Cell Line:	MPI-II (ES Cell)
Strain of Origin:	129S2/SvPas

Allele Type:    Targeted (Dominant negative) Mutation:    Insertion   Mutation details: A loxP site was inserted into exon5 and a loxP-flanked neo was inserted in intron 8. The exon 6 within the vector contained a G286S substitution. The G286S substitution lies within the conserved GYG motif in the P-segment and abolishes channel activity in homomeric mutant channels as well as in a heteromer with wild-type subunits. Cre-recombinase treatment after homologous recombination in the ES cells removed the neo cassette resulting in a dominant negative mutation. (J:105924)

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

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 Kcnq4 Mutation:	36 strains or lines available

Original:	J:105924 Kharkovets T, et al., Mice with altered KCNQ4 K+ channels implicate sensory outer hair cells in human progressive deafness. EMBO J. 2006 Feb 8;25(3):642-52
All:	3 reference(s)