Kcnc1^em1Emgol
Endonuclease-mediated Allele Detail

Summary

• Symbol: Kcnc1^em1Emgol
• Name: potassium voltage gated channel, Shaw-related subfamily, member 1; endonuclease-mediated mutation 1, Ethan M Goldberg
• MGI ID: MGI:8348402
• Synonyms: Kcnc1-p.Arg320His, Kcnc1-R320H
• Gene: Kcnc1 Location: Chr7:46045921-46088128 bp, + strand Genetic Position: Chr7, 30.1 cM
• Alliance: Kcnc1^em1Emgol page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Dominant negative, Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Arginine codon 320 (CGC) in exon 2 was changed to histidine (CAC) (c.959G>A, p.R320H). The mutation is the equivalent of the same human mutation associated with progressive myoclonus epilepsy type 7 (EPM7; PME7) or myoclonus epilepsy and ataxia due to KCNC1 mutation (MEAK) and in mice causes a similar phenotype. (J:378003)
• Inheritance: Dominant

Disease models

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 Kcnc1 Mutation: 41 strains or lines available

References

• Original: J:378003 Feng H, et al., Targeted therapy improves cellular dysfunction, ataxia, and seizure susceptibility in a model of a progressive myoclonus epilepsy. Cell Rep Med. 2024 Feb 20;5(2):101389
• All: 1 reference(s)