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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
Tbx21
duane
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Tbx21
du
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基础信息
表型特征
文献报道
ENU诱变在chr11:96973058位置产生了一个点突变(T到A),影响了第二个内含子的剪接接受位点,导致正常剪接受阻。这个突变导致肽链末端缺失8个氨基酸。激活的脾细胞在蛋白表达上相比野生型细胞,呈现出3到4倍的降低。(来源:J:154069)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
4367995
C57BL/6
Chemically induced
单点
隐性
1
2
3
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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