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中文
通过sgRNAs和ssODN模板，利用CRISPR/cas9技术，产生了一个T到C的点突变(c.2329T>C)，将酪氨酸密码子(TAT)替换为histidine密码子(CAT)，产生了p.Y777H的变异。这个变异（之前称为em1）模拟了人类显性夜间前额叶癫痫（ADNFLE）患者中发现的p.Y796H功能增强突变（来源：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
