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中文
CRISPR/Cas9技术通过sgRNA(靶向TCACAAAACTCTCCATCGTC和ATTGGATGGGGATGTCAAGG)及ssODN模板，产生了一个位于第512位的C到T碱基转换(c.512C>T)，导致了丝氨酸变为亮氨酸的氨基酸替换(p.S171L)。这与临床案例中发现的与原发性卵巢功能不全相关的、人类的p.S167L变异相匹配。免疫荧光结果显示睾丸组织匀浆中的蛋白质表达量降低。(来源：J:303558)
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
