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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
Ryr2
tm1.1Clhh
Alias:
RyR2
P2328S
RyR2
s
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基础信息
表型特征
文献报道
Exon 45被替换成了一个,其中的核苷酸替换(CCC替换为TCT)导致了2328位氨基酸(Proline,P2328)被丝氨酸(Serine)替代,这模拟了某些catecholaminergic polymorphic ventricular tachycardia(CPVT)患者中发现的突变。下游的floxed neo cassette通过Cre介导的重组被去除了。(来源:J:186379)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5432111
129S/SvEv
Targeted
Insertion, Nucleotide substitutions
--
1
8
6
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
No Data Found!
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