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中文
将小鼠Npc1基因的Intron 9替换为人NPC1基因的Intron 9，其中包含c.1554-1009G到A的替换。这导致了一个早发性终止密码子和一个缩短的蛋白质。 Western blot分析显示，大脑中检测到隐约的类似野生型蛋白的条带，而肝脏中则无条带。（来源：J:266795）
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
