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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
基因编辑小鼠
Psen1
tm1Dgf
Alias:
PS-1
P264L
PS1
P264L
Psen1
tm1Rsim
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基础信息
表型特征
文献报道
设计了一个靶向元件,用于将P264L突变插入第8号外显子。Northern印迹显示突变鼠和野生型小鼠的mRNA水平相当。 Western blot结果显示,尽管mRNA表达正常,N端和C端片段的表达大约减少了50%。(来源:J:102425)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3608968
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
核苷酸替换
--
1
17
29
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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