Kcnb1^em3Kea
Endonuclease-mediated Allele Detail

Summary

• Symbol: Kcnb1^em3Kea
• Name: potassium voltage gated channel, Shab-related subfamily, member 1; endonuclease-mediated mutation 3, Jennifer Kearney
• MGI ID: MGI:6755225
• Synonyms: Kcnb1^R306C
• Gene: Kcnb1 Location: Chr2:166937889-167032075 bp, - strand Genetic Position: Chr2, 87.22 cM
• Alliance: Kcnb1^em3Kea page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s))
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 editing was used to introduce nucleotide changes, including substitution of cysteine for arginine in codon 306 (CGC to TGC), and a silent change in codon 304 to disrupt an adjacent PAM site (ATC to ATT). (J:346401)

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 Kcnb1 Mutation: 45 strains or lines available

References

• Original: J:346401 Kang SK, et al., Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent KCNB1-p.R306C voltage-sensor variant. Neurobiol Dis. 2024 Mar 13;194:106470
• All: 1 reference(s)