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中文
分子异常是一个在exon3内的第86位由A替换为G，导致编码蛋白质的酪氨酸(TAC)被胱氨酸(TGC)替代的变异。对睾丸匀浆的qPCR分析显示，纯合突变鼠和对照野生型间mRNA转录水平无显著差异。然而，对睾丸匀浆中46kDa亚型的Western blot分析表明，该蛋白质表达量减少了野生型水平的41%（来源：J:250115）。
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
