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中文
Exon 4被替换成一个由loxP和FRT座点 flank的诺姆西林选择座。4号外显子的缺失破坏了编码PTB域的序列。通过针对PTB域的抗体进行的 Western blot分析，在纯合突变小鼠中未检测到正常蛋白。如果发生3号和5号外显子之间的异常剪接，产生框移突变和无义突变，理论上会阻止Clathrin和适应器蛋白复合体（AP-2）结合位点的翻译。(来源：J:84694)
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
