在第七外显子通过CRISPR/Cas9技术插入了四个核苷酸(TCCC),导致了一个移码和早停密码子(p.D313Sfs*11)。这种变异在复合杂合性与Foxn1em2Oers等位基因的另一种变异一起时,复制了人类与小肠克隆病伴中度胸腺发育缺陷但无脱发和指甲病关联的突变(来源:J:280961)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Endonuclease-mediated
插入
--
1
4
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