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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
Cyp1a1
tm4.1Dwn
Alias:
Cyp1a1
mtp
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基础信息
表型特征
文献报道
在第2外显子被替换为一个修改过的第2外显子,其中由CTT替换为AAT的密码子7位和CTC替换为AAC的密码子17位,导致在SRP结合位点和内质网膜锚定/移位序列的氨基酸由赖氨酸(Leu)变为天冬酰胺(Asp),即第7位的L7N和第17位的L17N。插入在修改外显子上游的floxed neo cassette通过Cre介导的重组已被去除。该产物预计会进行线粒体蛋白酶体靶向。(来源:J:163973)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
4830524
129X1/SvJ
Targeted
Insertion, Nucleotide substitutions
--
1
--
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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