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中文
核苷酸替换(CT到GA)导致产生一个早发性终止密码子(p.S345*)，并剪短了C末端域的最后15个氨基酸。这种突变在疣病、低球蛋白血症、感染和WHIM综合症患者中被发现。除了这个exon 2的变异，还插入了内含子2一个由loxP序列引导的诺卡因抗性基因元件。随后，该neo cassette通过Cre介导的重组被移除。(来源：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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
