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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
Lrp1
tm2Ajmr
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基础信息
表型特征
文献报道
RMCE(重组介导的 cassette exchange)被用来将76到89号外显子替换为一个带有frt内含子标记的 cassette,这个 cassette 包含了76到89号外显子的cDNA以及一个floxed neo基因。cDNA中的76号外显子突变导致RHRR被AHAA替换,干扰了furine切割位点(来源:J:144146)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3830330
129P2/OlaHsd
Targeted
Insertion, Nucleotide substitutions
--
1
3
1
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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