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中文
在exon 31的cysteine密码子1559位由TGC变为phenylalanine(转录为TTC，等同于c.4676G>T，p.C1559F)。这是通过sgRNA(靶向TGTTGGTCGTTTCGTTCAGGAGG)和ssODN模板，应用CRISPR/Cas9技术实现的。这个变异与人类POLR1A中罕见的c.4685G>T(p.Cys1562Phe)变异相似，后者关联着面部、神经和心脏的异常(参考文献：J:335489)。
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
