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中文
在第5外显子前方插入了FRT引导的neo cassette和loxP位点，接着在第6外显子插入了R497X突变，通过同源重组在第6外显子下游插入了另一个loxP位点。通过Flp介导的重组，neo cassette被移除。RT-PCR分析显示，P10纯合子内耳中Marveld2-d(缺少第4外显子)和Marveld2-e(第6外显子的替代剪接版本)的剪接变异有所上调。 Western blot分析在P10纯合子内耳提取物中未检测到野生型蛋白。(来源：J:201580)
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
