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中文
这个由ENU诱发的突变通过补救测试被证明是Pkd1基因的一个等位基因。分子分析显示，9248位点的T到G转换突变导致编码蛋白的首个跨膜域中甲硫氨酸被替换为arginine。人类中也存在类似的变异。(来源：J:75360)
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
