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Kcnq4tm1.2Tjj
Targeted Allele Detail
Summary
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: Chr4:120553335-120605809 bp, - strand  Genetic Position: Chr4, 56.52 cM
Alliance: Kcnq4tm1.2Tjj page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:105924
Parent Cell Line:  MPI-II (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted (Dominant negative)
Mutation:    Insertion
 
Mutation detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Kcnq4 Mutation:  38 strains or lines available
References
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory