Psen1基因的Exon3,编码起始密码子的部分,被删除并替换为诺卡因载体。同纯合突变小鼠大脑组织的Northern印迹显示,有少量的突变Psen1 mRNA,大小比野生型Psen1要小。同位素免疫沉淀- Western印迹在纯合突变小鼠中未检测到C端蛋白质片段。作者认为这种突变是一种无功能等位基因。(来源:J:40365)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S7/SvEvBrd-Hprt1b-m2
Targeted
插入,基因内删除
--
1
17
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
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