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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
Chrna5
tm1.1Itl
Alias:
alpha5DN
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基础信息
表型特征
文献报道
G到A的点突变导致第397位的氨基酸由天冬酰胺替换为天冬氨酸(由D397N表示)。这种突变产生了隐性致病的效应,因为它是显性的。新霉素抗性基因座已经被移除。这个非同义的工程SNP等同于人类的SNP rs16969968(在J:225451位置)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5767316
C57BL/6
Targeted
Insertion, Nucleotide substitutions
--
1
1
2
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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