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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
Prpf3
tm1.1Eap
Alias:
Prpf3
T494M
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基础信息
表型特征
文献报道
在内皮10插入了一个FRT框引导的neo cassette,通过同源重组在exon 11引入了CA到TG的突变,导致了第494位的丝氨酸替换为甲硫氨酸(T494M)。为基因分型,还引入了一个对XmnI酶不起作用的沉默突变。通过Flp介导的重组移除了neo cassette。Northern blot结果显示,转基因小鼠视网膜的转录大小和表达水平与野生型对照相似。Western blot分析证实,这些小鼠视网膜中的蛋白质表达水平与野生型对照相当。在细胞亚显微结构定位上,转基因小鼠视网膜的表现也与野生型对照相似。(来源:J:171561)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
4950562
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
4
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
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