CRISPR/cas9基因编辑技术用于在第9外显子的第392位替换为终止密码子的色氨酸,即W392X(最初发表为W329X)。W392X类似于人类的W402X变异,与I型黏多糖贮积症(MPSI)的严重症状关联。来源:(J:300121)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
NOD.Cg-Prkdcscid Il2rgtm1Wjl/SzJ
Endonuclease-mediated
Insertion, Nucleotide substitutions
--
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:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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