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CRISPR/Cas9 technology introduced c.1021C>T and c.1023G>A mutations in exon 2 resulting in the exchange of arginine at amino acid 341 with a STOP codon (p.R341*). This corresponds to the most common WHIM syndrome-causing p.R334* mutation. (J:339144)
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
