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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
Zap70
rps
Alias:
Zap70
A243V
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基础信息
表型特征
文献报道
ENU诱变产生了C到T的点突变,导致第243位的Valine被Alanine替换(A243V)。这个突变发生在C末端的SH2区域。流式细胞术确认了胸腺和脾脏中CD4+ CD8+ T细胞上蛋白表达的降低。(来源:J:211510)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5576549
C57BL/6
Chemically induced
单点
--
1
6
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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