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中文
在cDNA的第2403位，通过定点突变和同源重组引入了A到T的变异，产生了终止密码，导致96个羧基端氨基酸的缺失，这模拟了人类患者先天性中性粒细胞减少症和急性髓系白血病中观察到的突变。RT-PCR和限制酶分析结果显示，纯合突变小鼠没有正常转录本，且表达的突变转录本水平正常。(来源：J:78375)
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
