在编码区域,通过微注射Cas9 mRNA、Scr7、两个sgRNAs和一个包含目标的GC>AG替换以及三个silent替换的ssODN(单链脱氧核糖核酸)来创建了p.Arg229Gln突变。这种R229Q变异在一些重症联合免疫缺陷症(SCID)和奥门恩综合症(OS)患者中被发现。(来源:J:276940)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6JBomTac
Endonuclease-mediated
核苷酸替换
--
1
7
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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
微信
信息比对
科研助手
使用教程
回到顶部