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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
Otop1
tlt
Alias:
tilted head
tlt
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基础信息
表型特征
文献报道
tlt基因的突变已经被确定为在第三外显子的第452位发生了一个C到A的转换变异,导致了氨基酸位置151上的Alanine变为Glutamic Acid,即p.A151E(来源:J:82639)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
1856638
STOCK Oca2p-6H/Oca2p-d
Spontaneous
单点
隐性
1
--
15
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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