CRISPR/Cas9技术产生了一个arginine替换为 cysteine的氨基酸106位(p.R106C)变异。这对应于人类的p.R108C致病突变,被归类为muto,导致甲基马尿酸酸症中更常见且严重的形式(来源:J:332892)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Endonuclease-mediated
核苷酸替换
--
1
2
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
No Data Found!
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