Kcnq2^em3Frk
Endonuclease-mediated Allele Detail

Summary

• Symbol: Kcnq2^em3Frk
• Name: potassium voltage-gated channel, subfamily Q, member 2; endonuclease-mediated mutation 3, Wayne Frankel
• MGI ID: MGI:7384667
• Synonyms: Kcnq2-T274M
• Gene: Kcnq2 Location: Chr2:180717372-180777093 bp, - strand Genetic Position: Chr2, 103.57 cM, cytoband H3-4
• Alliance: Kcnq2^em3Frk page

Mutation origin

• Strain of Origin: B6(C3Fe)-Scn8a^8J/Frk

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/cas9 genome editing is used to introduce theT274M (threonine to methionine; ACC to ATG) and T277T (ACC to ACG; silent PAM deleter) mutations into exon 6. The T274M missense variant is a pathogenic mutation found in some patients diagnosed with Early Onset Epileptic Encephalopathy (EOEE). (J:94077)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Kcnq2 Mutation: 47 strains or lines available

References

• Original: J:94077 Mutant Mouse Regional Resource Centers, Information obtained from the Mutant Mouse Regional Resource Centers (MMRRC). Unpublished. 2004-2015
• All: 1 reference(s)