Kcnq2^tm1.1Hosh
Targeted Allele Detail

Summary

• Symbol: Kcnq2^tm1.1Hosh
• Name: potassium voltage-gated channel, subfamily Q, member 2; targeted mutation 1.1, Naoto Hoshi
• MGI ID: MGI:7550418
• Synonyms: Kv7.2(S559A)
• Gene: Kcnq2 Location: Chr2:180717372-180777093 bp, - strand Genetic Position: Chr2, 103.57 cM, cytoband H3-4
• Alliance: Kcnq2^tm1.1Hosh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:293605
• Parent Cell Line: JM8.N4 (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Serine codon 559 (AGT) in exon 13 was changed to alanine (GCC) (p.S559A) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 13. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation prevents phosphorylation of the affected residue in the encoded peptide, which lowers its affinity for phosphatidylinositol 4,5bisphosphate (PIP2). (J:293605)

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 Kcnq2 Mutation: 49 strains or lines available

References

• Original: J:293605 Greene DL, et al., Attenuating M-current suppression in vivo by a mutant Kcnq2 gene knock-in reduces seizure burden and prevents status epilepticus-induced neuronal death and epileptogenesis. Epilepsia. 2018 Oct;59(10):1908-1918
• All: 3 reference(s)