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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
转基因模型
Tg(Ttr-PROC*)#Bise
Alias:
APC
high
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基础信息
表型特征
文献报道
一种经过突变的人类蛋白C基因的cDNA被插入到了肝特异性转甲状腺素蛋白基因的1号和2号外显子以及启动子所在的3kb片段中,其中D167F和D172K的密码子发生了变化(预前体肽的D209F和D214K)。这些改变使得酶的活性增强。(来源:J:130271)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
6755181
C57BL/6
--
Insertion, Nucleotide substitutions
--
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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