将5号外显子替换为hygromycin载体导致4号和6号外显子间产生了一个框移。来自纯合突变小鼠大脑、肾脏、肺、心脏和肝脏的RNANorthern印迹确认了Psen2基因的全基因突变。使用针对Psen2蛋白N端和C端特异抗体的同源突变小鼠组织 Western blot,也证实了这一突变。(来源:J:58118)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
插入,基因内删除
--
1
5
25

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

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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