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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
Atxn2
tm1Plt
Alias:
Sca2
-
SCA2
tm1SMP
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基础信息
表型特征
文献报道
一个新霉素抗性基因通过同源重组替换了一段1号外显子。1号外显子包含了起始翻译位点。逆转录-PCR在突变体中未能检测到转录本。通过 Western blot 和多种组织的免疫细胞化学分析,也未检测到蛋白质。(来源:J:103805)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3611805
129X1/SvJ
Targeted
插入,基因内删除
--
1
3
7
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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