Kcnb1^em1Kea
Endonuclease-mediated Allele Detail

Summary

• Symbol: Kcnb1^em1Kea
• Name: potassium voltage gated channel, Shab-related subfamily, member 1; endonuclease-mediated mutation 1, Jennifer Kearney
• MGI ID: MGI:6272702
• Synonyms: Kcnb1^G379R, Kcnb1^R
• Gene: Kcnb1 Location: Chr2:166937889-167032075 bp, - strand Genetic Position: Chr2, 87.22 cM
• Alliance: Kcnb1^em1Kea page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 editing was used to introduce three nucleotide changes, including two nucleotide changes in codon 379 (GGT > CGC) resulting in substitution of arginine for glycine at position 379 (G379R), and a silent change in codon 377 to disrupt an adjacent PAM site (ACC > ACA). (J:296318)

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: 43 strains or lines available

References

• Original: J:296318 Hawkins NA, et al., Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant. Neurobiology of Disease. 2020
• All: 1 reference(s)