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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位点环绕的序列，这个序列替换掉了内含子2从起始密码子到103bp的区域，对应的human PRRT2基因的c.649_650InsC突变被包含在内。这是一种在原发性阵发性肌张力障碍患者中发现的突变。PGK-neo和STOP cassette的存在产生了无功能等位基因。对大脑组织匀浆的 Western blot 检测确认了没有蛋白质表达。(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
