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Kcnt1em8Frk
Endonuclease-mediated Allele Detail
Summary
Symbol: Kcnt1em8Frk
Name: potassium channel, subfamily T, member 1; endonuclease-mediated mutation 8, Wayne N Frankel
MGI ID: MGI:6509315
Synonyms: Kcnt1em1Frk, Kcnt1em1(Y777H)Frk, Kcnt1m, Kcnt1Y777H
Gene: Kcnt1  Location: Chr2:25753807-25808285 bp, + strand  Genetic Position: Chr2, 18.27 cM
Alliance: Kcnt1em8Frk page
Mutation
origin
Strain of Origin:  C57BL/6NJ
Mutation
description
Allele Type:    Endonuclease-mediated (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsUsing 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  66 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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory