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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
Coro1a
ptcd
Alias:
Coro1A
E26K
ptcd
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基础信息
表型特征
文献报道
在基因座的exon 2处发生G到A的自发突变,导致β-螺旋域内的26号氨基酸由非保守的谷氨酸替换为赖氨酸。这个位置位于表面暴露的loop 12,靠近Coro1B中已知的与肌动蛋白结合区域相邻。突变蛋白在迁移T细胞的前沿定位上不同于内源性蛋白的表现。免疫印迹分析显示,纯合子小鼠胸腺细胞中突变蛋白的丰度与野生型对照中内源蛋白相似。(来源:J:141431)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3818503
CTS
Spontaneous
Nucleotide substitutions, Single point
隐性
1
1
4
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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