这个转基因包含了以下组件:小鼠Prion蛋白基因的启动子和exon1、 intron1和exon2,一段编码人类Ubqln2 cDNA中proline 506被替换为threonine(p.P506T)的内插FLAG标签的序列,以及Prnp的exon3和下游序列。这种变异与家族性前额叶-颞叶痴呆/肌萎缩侧索硬化症(FTD/ALS)相关。(来源:J:267076)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
(C57BL/6 x SJL)F2
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1
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2

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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