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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
Htr6
tm1Arte
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基础信息
表型特征
文献报道
Exon 1被替换为一个,其中的核苷酸变异导致了第69位的莱氨酸替换为苯丙氨酸(F69L)、第71位的异亮氨酸替换为丝氨酸(T71I)以及第72位的天冬氨酸替换为丙氨酸(D72A)。下游插入了一个由frt序列引导的新 cassette。 (来源:J:145073)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3839298
C57BL/6
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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