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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
H2-T23
tm3Cant
Alias:
Qa-1 D227K
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基础信息
表型特征
文献报道
基因座Exon 4被设计了一个突变,导致第227位的天冬氨酸替换为赖氨酸(D227K)。下游插入了去氨甲基化新霉素抗性基因座,随后通过和携带Cre转基因小鼠杂交来移除。在纯合小鼠激活的CD4+ T细胞表面,突变蛋白表达水平与野生型小鼠内源性蛋白相似,预测这会干扰CD8核心受体复合物的结合。(来源:J:142087)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3821721
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
--
9
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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