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中文
exon 2被替换为一个经过修改的，包含A到G的点突变版本，导致第86位的氨基酸从甘氨酸替换为天冬氨酸(等同于D86G)。这个突变与Bowen-Conradi综合症(BCS)关联。通过flp介导的重组，去除了插入的splice接受器IRES-beta-geo序列。(来源：J:230556)
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
