Log In|Sign Up
中文
CRISPR/Cas9导向的基因组编辑被用来在第129位替换氨基酸，由arginine替换为histidine（R129H，CG替换为CA），发生在exon 4。这个变异被识别为人类早发型的ornithine转氨酶缺乏相关变异等位基因。（来源：J:101977）
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
