Kcnt1^em1Pqt
Endonuclease-mediated Allele Detail

Summary

• Symbol: Kcnt1^em1Pqt
• Name: potassium channel, subfamily T, member 1; endonuclease-mediated mutation 1, Paul Q Thomas
• MGI ID: MGI:7442161
• Synonyms: L
• Gene: Kcnt1 Location: Chr2:25753807-25808285 bp, + strand Genetic Position: Chr2, 18.27 cM
• Alliance: Kcnt1^em1Pqt page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated to C to T change at position c.2714 resulting in a proline to leucine substitution at amino acid 905 (p.P905L). This is equivalent to the p.P924L pathogenic variant found in two patients with epilepsy of infancy with migrating focal seizures (known as developmental and epileptic encephalopathy 14). (J:333512)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Kcnt1 Mutation: 66 strains or lines available

References

• Original: J:333512 Burbano LE, et al., Antisense oligonucleotide therapy for KCNT1 encephalopathy. JCI Insight. 2022 Dec 8;7(23)
• All: 1 reference(s)