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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
Gata1
tm1.1Yen
Alias:
GATA-1
S26E
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基础信息
表型特征
文献报道
在exon 2的位置替换了一个经过修改的exon 2,其中的碱基替换(TCA替换为GAG)导致了第26位氨基酸由丝氨酸(Ser)变为谷氨酸(Glu,即S26E)。这种变异模拟了在这个位置的磷酸化。通过cre介导的重组,去除了位于修改后exon 2下游的含荧光素的neo抗性基因座。(来源:J:200716)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5521597
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Nucleotide substitutions
--
1
14
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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