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中文
在杰克逊实验室发现的一种自发突变。c.190G>T的转换产生了一个在谷氨酸密码子64（p.E64*）的早发型终止密码子，导致预测的蛋白质缺乏跨膜域和钙调素结合域。mRNA表达显著降低，脑组织免疫组化检测不出任何蛋白质。（来源：J:148602）
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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References Literature
Title
PMID
Journal
Year
IF
