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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
Kitl
tm1Pbes
Alias:
Sl
KL2
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基础信息
表型特征
文献报道
第六外显子被替换成新霉素选择标记元件。这个可变剪接的第六外显子编码产生可溶性编码蛋白的主要酶切位点。纯合子小鼠只表达含跨膜形式的转录本。然而,它们的血清中检测到编码蛋白的可溶性形式水平较低,这表明存在一个次要的酶切位点。(来源:J:50150)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3664559
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
插入,基因内删除
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1
8
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
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