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中文
CRISPR/Cas9技术产生了一个位于727位的C到T变异(c.727C>T)，这与人类已报道的在两姐妹中首次发现的c.721C>T家族性突变对应。这个无义突变预测会导致蛋白质部分缺失。定量实时PCR显示转录水平下降，而 Western blot分析则显示纯合子中没有检测到蛋白质。(来源：J:309952)
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
