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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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
