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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
Prph2
tm3.1Itl
Alias:
C150S-Prph2
Prph2
C
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基础信息
表型特征
文献报道
在编码蛋白的exon 1引入了一个A到A的点突变,产生了p.C150S的替换。插入的内含子1中的neomycin选择性 cassette,其带有FRT和loxP的起始和终止序列,通过flp介导的重组被移除了(来源:J:266419)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
6367798
Not Specified
Targeted
Insertion, Nucleotide substitutions
--
1
20
3
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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