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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
Chat/Slc18a3
tm1.1Vpra
Alias:
VAChT
del
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基础信息
表型特征
文献报道
在Slc18a3基因的起始密码子下游260bp位置添加了一个loxP序列,这个序列位于Chat基因的第一个内含子内。接着,在终止密码子大约1.5kb下游,又增加了一个loxP。这个两侧区域包含了Chat基因的第二个外显子。随后,TK-Neo cassette紧接在第二个loxP之后,紧接着是一个第三个loxP,所有这些都在同一方向上。通过体内Cre介导的重组,能够从小鼠中删除这个含TK-Neo cassette的靶向区域。用qPCR检测同源纯合小鼠大脑中未检测到Slc18a3 mRNA。在脊髓提取物的Western blot分析和神经肌肉接头的免疫染色中,同源纯合突变小鼠也未发现Slc18a3蛋白。E18.5期脊髓中Chat蛋白水平升高,而E18.5期小鼠大脑的Chat mRNA检测显示其水平也有所增加(来源:J:153908)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
4367608
129S4/SvJae
Targeted
Insertion, Intergenic deletion
--
1
8
4
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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