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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
Tc(HSA17*N279K)1Mdk
Alias:
MAPT(H1.0*N279K)-GR
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基础信息
表型特征
文献报道
在小鼠染色体11上,一个157千碱基的删除发生,范围从但不包括Crhr1到Kansl1,被人类染色体17(HSA17)上的一个190千碱基的同源区域替换。在这个区域中,鼠的Sppl2c(信号肽酶2C)和Mapt(微管相关蛋白tau)基因被人类的SPPL2C和MAPT(H1亚型)基因取代。人类的MAPT基因被修改,加入了在FTD患者中发现的N279K(天冬氨酸到赖氨酸)突变。还插入了一个由loxN启动子和去氨青霉素抗性基因 cassette驱动的,通过暂时的Cre表达被剔除的元件。(来源:J:101977)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
6705043
C57BL/6NTac
Targeted
Insertion, Intergenic deletion, Nucleotide substitutions
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2
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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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