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中文
在exon 4的CGGArginine第216位（CGG）被设计成改变为His（CAC），通过sgRNA（靶向GAAATACATTAGCTGCCGGCTGG）和ssODN（GAGGCTGAAGTAATAGCTCAAGTAGATACATGCCAACAGTATAACCACAAATGTCACCAGGTGGCAGCTAATGTATTTCATGATTAAATGACTAGAGTTCTTTTTTGTCTTCAAGTACTGCTC）实现。这种变异在人类和小鼠中都保守，且在一位伴有原发性卵巢功能不全、严重智力障碍、感音神经性听力损失和脊柱侧弯症状的患者中被发现。（参考文献：J:307589）
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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References Literature
Title
PMID
Journal
Year
IF
