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中文
这个基因通过同源重组，将PGK-neo cassette靶向到了exon 1，导致了突变。RT-PCR分析和产物测序显示，产生了有异常剪接的突变转录本，Thymidine kinase的阴性选择标记在3'端出现了问题，导致了框架插入和提前终止翻译，Gli3蛋白由此被截短。这种突变蛋白在锌指域的C端被截断，前有21个突变氨基酸，与人类Pallister-Hall综合症中的变异相似。(引用：J:76496)
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
