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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
Lacc1
em3Arkr
Alias:
line 9
mFamin
p284R
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基础信息
表型特征
文献报道
CRISPR引导的工具将TGT替换成CGT,导致第5外显子的氨基酸替换,从arginine变为 cysteine(C284R)。这个等位基因模拟了人类患青少年型脊柱关节炎和早发型克罗恩病的‘风险’变异(J:244365)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
6118041
C57BL/6NTac
Endonuclease-mediated
单点
--
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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