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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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基因编辑小鼠
Pkhd1
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基础信息
表型特征
文献报道
这个自发突变发生在exon 48,包括7588_7589位置的GG缺失和一个T的插入,导致氨基酸序列改变并随后产生一个在44个核苷酸下游的早终止密码子(来自文献J:343537)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
7568836
D2.B6Ei-(D4Mit42-D4Smh6b)/11Ei
Spontaneous
插入,基因内删除
隐性
1
13
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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