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中文
ENU诱导在exon 19前13个碱基的位置发生了T到G的突变。RT-PCR和测序分析表明，突变转录本包含了29个内含子序列，这是由于使用了替代的接受位点。额外碱基的插入会导致框架移位突变和多个早停密码子。半定量的RT-PCR结果显示，突变mRNA相对于野生型的丰度较低。免疫印迹分析在纯合突变体的大脑组织提取物中未检测到蛋白质。(来源：J:205043)
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
