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中文
在一组扩张型心肌病家族中发现的致病性 autosomal dominant Arg141Trp (R141W) 点突变，发生在第9外显子后，通过同源重组插入了一个neo/zeo载体。随后，通过Cre介导的重组去除了这个neo/zeo载体。反转录-PCR和心脏总RNA的测序确认了突变基因mRNA的表达。(来源：J:243725)
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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References Literature
Title
PMID
Journal
Year
IF
