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中文
CRISPR/Cas9技术产生的C到G突变导致第88位的天冬酰胺变为赖氨酸（N88K）。这种变异在先天性肌营养不良症患者中有所体现。 Western blot结果显示，肌萎缩侧索硬化症中这种突变蛋白的水平与野生型在横膈膜中的水平相当。（来源：J:282816）
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
