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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
Mdm2
tm3.1Snj
Alias:
Mdm2
D
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基础信息
表型特征
文献报道
核苷酸替换(tcc替换为gat)导致第394位氨基酸由天冬氨酸替换为丝氨酸(S394D)。这种突变推测会模拟一个恒定磷酸化的丝氨酸残基。通过Cre介导的重组,去除了在第12外显子下游插入的含floxed neo cassette的元件。(来源:J:189297)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5446922
129S4/SvJae-Tg(Prm-cre)70Og
Targeted
Insertion, Nucleotide substitutions
--
1
5
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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