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EN
Using CRISPR/cas9 endonuclease mediated genome editing, single guide RNAs are designed to create a C-to-T nucleotide replacement (CGA-to-TGA) encoding an arginine 539-to-termination codon nonsense mutation (R539X). This mutation corresponds to the R542X mutation identified in the patient population as a disease causing variant in Congenital Disorders of Glycosylation Type 1v. (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：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
