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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
Acvr1
tm2.1Vlcg
Alias:
Acvr1
R206H
FlEx
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基础信息
表型特征
文献报道
5号外显子和相关的内含子序列被替换成一个loxP位点,对应的野生型人类5号外显子和内含子序列Lox2372位点,一个发生碱基替换导致第206位氨基酸由 Histidine 改为 Arginine(R206H)的反向5号外显子,一个来源于兔β血红蛋白内含子2的小片段插入,以及一个带有FRT标签的诺卡因抗性基因座。通过Flp介导的重组移除了选择性载体。R206H点突变模拟了人类中已知的导致纤维骨化异常进展症(FOP)的突变。在Cre介导作用之前,大约一半的转录本缺失5号外显子,形成了一种功能减弱的等位基因。(来源:J:234069)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5763014
C57BL/6NTac
Targeted
Insertion, Nucleotide substitutions
--
1
2
7
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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