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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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基因编辑小鼠
S1pr2
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基础信息
表型特征
文献报道
这个分子异常是一个在第289位的C-G转换,导致编码蛋白质的区域由丝氨酸变为arginine(p.T289R),这个位置在编码蛋白中非常保守。编码蛋白在对照组和纯合小鼠中的表达水平和时空分布相似,通过免疫组化检测得出(来源:J:240361)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5423977
C57BL/6Brd-Tyrc-Brd
Spontaneous
单点
--
1
2
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
No Data Found!
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