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中文
在启动子上游插入了一个由PGK-neo 3x stop cassette和loxP位点环绕的区域，然后将2号内含子从起始密码子到103bp的位置替换为带有c.649_650InsC突变的人类PRRT2基因cDNA。这是一种在阵发性肌阵挛性舞蹈病患者中发现的突变。通过Cre介导的重组，去除了PGK-neo。对脑组织的 Western blot 检测并未在纯合子中检测到截短蛋白。定量PCR结果显示，截短mRNA水平降低，mRNA不稳定性增加，半衰期缩短。(来源：J:306987)
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
