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中文
ENU诱变在第一个外显子的c170位点产生了一个T到C的突变，导致苯丙氨酸变为丝氨酸。RT-PCR结果显示mRNA表达水平与野生型无差异，但Western blot分析显示骨髓中纯合子的蛋白质显著减少。在红细胞、大脑、骨髓来源的巨噬细胞以及未经分选的骨髓中，TPI1酶活性分别只有野生型的10%、12%、13%和16%。(来源：J:263104)
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
