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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
Gnao1
tm2.1Rneu
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基础信息
表型特征
文献报道
第五外显子被替换为一个修改过的第五外显子,其中包含nculeotide的替换(UGC替换为AGT),导致第184位氨基酸由丝氨酸替换为甘氨酸( G184S)。这种突变阻止了RGS的结合。插入在第五修改外显子和第六外显子之间的删除了floxed neo cassette。(来源:J:216850)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5620501
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
Insertion, Nucleotide substitutions
--
1
8
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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