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Nucleotide substitutions (CT to GA) result in the creation of a premature stop codon (p.S345*) and the truncation of the last 15 residues of the C-terminal domain. This mutation has been identified in patients with warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome. In addition to this exon 2 mutation, a loxP site flanked neomycin resistance gene cassette was inserted into intron 2. The neo cassette was subsequently removed through cre-mediated recombination. (J:178789, J:186735)
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
