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EN
A p.Arg229Gln mutation was created in the coding region by micro-injecting zygotes with Cas9 mRNA, Scr7, two sgRNAs, and an ssODN (single-stranded oligodeoxynucleotide) containing the desired GC>AG substitution plus three silent substitutions to prevent Cas9 re-cutting. The R229Q mutation is found in some severe combined immunodeficiency (SCID) and Omenn syndrome (OS) patients. (J:276940)
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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References Literature
Title
PMID
Journal
Year
IF
