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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
Eed
l7Rn5-1989SB
Alias:
eed
hypomorph
eed
1989
Eedl7
Rn5-1R
1989SB
17Rn5
1989SB
Eed
hypo
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基础信息
表型特征
文献报道
1989SB ENU诱导突变位点的胚胎外胚层发育定位的定位克隆发现,第1031位的胸腺嘧啶被腺嘌呤替换。在第193位的极性Asn被非极性Ile替换,这是一个第二WD结构域的氨基酸变化。(来源:J:35419)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
2135817
BALB/cRl
Chemically induced
单点
隐性
1
2
11
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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