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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
Lrrk2
tm2.1Npa
Alias:
LRRK2-D1994S
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基础信息
表型特征
文献报道
在exon 41的位置替换了一个带有修饰的floxed exon 41,通过插入了改变核苷酸(替换GAC为TCC)导致了serine替换为aspartic acid的氨基酸位点1994(ΔD1994S)。下游插入了FRT引导的neo cassette,随后通过flp介导的重组被去除了。预测的蛋白质功能是无激酶活性。(来源:J:176679)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5295371
BALB/c
Targeted
Insertion, Nucleotide substitutions
--
1
7
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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