Kcnj13^em2Fvs
Endonuclease-mediated Allele Detail

Summary

• Symbol: Kcnj13^em2Fvs
• Name: potassium inwardly-rectifying channel, subfamily J, member 13; endonuclease-mediated mutation 2, Francisco V Sepulveda
• MGI ID: MGI:8348360
• Synonyms: Kir7.1-M125R
• Gene: Kcnj13 Location: Chr1:87314085-87322451 bp, - strand Genetic Position: Chr1, 44.3 cM
• Alliance: Kcnj13^em2Fvs page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Nucleotide substitutions
• Mutation details: Methionine codon 125 (ATG) in exon 2 was changed to arginine (CGT) (p.M125R) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation renders the encoded protein extracellular-K<+>-dependent for K<+> conductance in choroid plexus epithelium (CPE) cells, leading to excess K<+> levels in levels in cerebrospinal fluid (CSF). (J:386568)

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 Kcnj13 Mutation: 24 strains or lines available

References

• Original: J:386568 Henao JC, et al., Role of the Choroid Plexus Kir7.1 Channel in the Regulation of Mouse Cerebrospinal Fluid K(+) Concentration. Acta Physiol (Oxf). 2025 Dec;241(12):e70129
• All: 2 reference(s)