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中文
CRISPR/Cas9技术在第13外显子产生了一个G到C的变异，导致第506位的Alanine被替换为Proline（p.A512P），这与人类在发展性和癫痫性脑病个体中检测到的A512P变异相符。免疫染色结果显示，P10时皮层、海马和小脑的蛋白质表达量降低。（来源：J:305201）
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
