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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
Tex19.1
tm4.1(Tex11)Jw
Alias:
Tex19
KI(V749A)
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基础信息
表型特征
文献报道
在exon 3的开放编码区,替换为Tex11的开放阅读框,通过一个由T到C的点突变,导致第479位的氨基酸从 alanine 变成了 valine(V749A)。这种突变与人类无生育能力男性的相关变异一致。随后,Cre介导的重组移除了下游插入表达序列后插入的筛选元件。(来源:J:229429)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5788293
(C57BL/6 x 129S4/SvJae)F1
Targeted
Insertion, Intragenic deletion, Single point
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1
2
1
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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