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中文
编码区域被替换为包含第4外显子中A到C替换的序列，导致第266位的Alanine被Aspartic acid替换（D266A）。这种突变阻止了SMAD2和SMAD3的激活，但不影响与Acvrl1的交互。通过脾和肝的RT-PCR分析，确认了修改后转录本的表达（来源：J:128498）。
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
