CRISPR/Cas9基因编辑技术用于在exon 2的TCA野生型苏氨酸密码子替换为TTA亮氨酸密码子(S55L)。小鼠的S55L突变等同于人类的S59L突变。人类CHCHD10基因的变异可导致前额叶-颞叶痴呆和肌萎缩侧索硬化症(ALS,来源:J:272524)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6NJ
Endonuclease-mediated
单点
--
1
6
2

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