Kcnc1^tm1Emgol
Targeted Allele Detail

Summary

• Symbol: Kcnc1^tm1Emgol
• Name: potassium voltage gated channel, Shaw-related subfamily, member 1; targeted mutation 1, Ethan M Goldberg
• MGI ID: MGI:8348398
• Synonyms: Kcnc1-Flox(A421V), Kcnc1-p.A421V
• Gene: Kcnc1 Location: Chr7:46045921-46088128 bp, + strand Genetic Position: Chr7, 30.1 cM
• Alliance: Kcnc1^tm1Emgol page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:386140
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Conditional ready, Dominant negative, Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Alanine codon 421 (GCT) in exon 2 was changed to valine (GTT) (c.1262C>T, p.A421V) and a loxP site, cDNA sequence coding for exons 2-4, SV40 poly(A) signal sequences and a second loxP site were inserted into intron 1. The mutation is the equivalent of the same human mutation associated with developmental and epileptic encephalopathy (DEE) and in mice causes a similar phenotype. This allele expresses the wild-type protein and only after Cre-mediated removal of the inserted wild-type sequence will it express the mutated protein. (J:386140)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:386140 Wengert ER, et al., Impaired excitability of fast-spiking neurons in a novel mouse model of KCNC1 epileptic encephalopathy. Elife. 2026 Feb 18;13
• All: 1 reference(s)