Kcnj8^em2Cbet
Endonuclease-mediated Allele Detail

Summary

• Symbol: Kcnj8^em2Cbet
• Name: potassium inwardly-rectifying channel, subfamily J, member 8; endonuclease-mediated mutation 2, Christer Betsholtz
• MGI ID: MGI:7489795
• Synonyms: Kcnj8^C176S
• Gene: Kcnj8 Location: Chr6:142510563-142517340 bp, - strand Genetic Position: Chr6, 74.31 cM
• Alliance: Kcnj8^em2Cbet page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: KCNJ8-activating mutations are found in patients with Cantu syndrome C176S by CRISPR-targeting techonology. (J:325735)

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 Kcnj8 Mutation: 32 strains or lines available

References

• Original: J:325735 Ando K, et al., KCNJ8/ABCC9-containing K-ATP channel modulates brain vascular smooth muscle development and neurovascular coupling. Dev Cell. 2022 Jun 6;57(11):1383-1399.e7
• All: 1 reference(s)