Kcnt1^em8Frk
Endonuclease-mediated Allele Detail

Summary

• Symbol: Kcnt1^em8Frk
• Name: potassium channel, subfamily T, member 1; endonuclease-mediated mutation 8, Wayne N Frankel
• MGI ID: MGI:6509315
• Synonyms: Kcnt1^em1Frk, Kcnt1^{em1(Y777H)Frk}, Kcnt1^m, Kcnt1^Y777H
• Gene: Kcnt1 Location: Chr2:25753807-25808285 bp, + strand Genetic Position: Chr2, 18.27 cM
• Alliance: Kcnt1^em8Frk page

Mutation origin

• Strain of Origin: C57BL/6NJ

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: Using sgRNAs and an ssODN template with CRISPR/cas9 technology, a T-to-C point mutation (c.2329T>C) was created to change tyrosine codon 777 (TAT) to a histidine codon (CAT) (p.Y777H). This mutation (formerly designated em1) mimics the p.Y796H gain-of-function mutation found in human autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) patients. (J:300699)

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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 Kcnt1 Mutation: 67 strains or lines available

References

• Original: J:300699 Shore AN, et al., Reduced GABAergic Neuron Excitability, Altered Synaptic Connectivity, and Seizures in a KCNT1 Gain-of-Function Mouse Model of Childhood Epilepsy. Cell Rep. 2020 Oct 27;33(4):108303
• All: 2 reference(s)