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中文
对基因的1号外显子引入了两个突变。第一个是无意义的C>G转换，移除了一个Hinf1限制性酶识别位点，以协助基因分型；第二个是致病的A>G，导致了编码蛋白的Y141C替换。通过Flp介导的重组，去除了含氨苄青霉素选择性座标的弗里特(Frt)位点。(来源：J:215646)
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
