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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*)1Mdk
Alias:
MAPT 10IVS+16 CT
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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157千碱基对的缺失发生,从但不包括Crhr1到Kansl1,被人类染色体17(HSA17)上的一个190千碱基对的同源区域替换。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等位基因)基因取代。人类的MAPT基因在10号内含子中有一个非编码的C到T(rs63751011)替换,位置是44087784(GRCh37/hg19)。这个变异在早发型额颞叶痴呆(FTD)患者中被识别。一个通过暂时的Cre表达去除的loxP位点引导的诺卡因抗性基因 cassette。(来源:J:101977)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
6729680
C57BL/6NTac
Targeted
Insertion, Intergenic deletion, Nucleotide substitutions
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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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