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中文
对Taq合成的RT-PCR产物进行核苷酸测序显示，这个等位基因包含一个T到C的转换。这通过将G-GT的剪接起始点替换为G-GA，移除了exon 4的剪接位点，进而导致mRNA的剪接缺陷，因为使用了一个8个碱基下游的潜在剪接起始点。野生型mRNA的表达量极低。(来源：J:80496)
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
