在Glycine的第125位(GGC)位置,替换成了Arginine(CGC),这被表示为p.G125R,通过sgRNAs(针对靶序列TAGGCCTTCATGTAGGTCCGTAAC和AAACGTTACGGACCTACATGAAGG)以及ssODN模板,使用了CRISPR/Cas9技术实现。这个变异等同于与HoltOram综合症(一种人类病症)或手心综合症相关的同源变异。(来源:J:333401)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
FVB
Endonuclease-mediated
单点
--
1
9
1

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

References Literature

Title
PMID
Journal
Year
IF
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