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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
tm2.1Dwn
Alias:
Cyp1a1
mc
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基础信息
表型特征
文献报道
在mRNA的第2外显子被替换为经过修改的第2外显子,其中的核苷酸替换(34位的AGA替换为GAC,39位的AAA替换为ATA)导致在mt靶向域内的氨基酸变化,从赖氨酸34(R34)变为天冬氨酸(D34),以及从赖氨酸39(K39)变为异亮氨酸(I39)。上游插入的条件性neo cassette通过Cre介导的重组被去除了。这个产物预计会进行内质网特异的靶向。(来源:J:163973)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
4830522
129X1/SvJ
Targeted
Insertion, Nucleotide substitutions
--
1
--
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
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