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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
转基因模型
Tg(Ckmm-Cav3)1Ysu
Alias:
CAV-3
P104L
mCAV-3Tg
TgCAV3M1
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基础信息
表型特征
文献报道
对编码Cav3的序列进行改造,将第104位的丙氨酸替换为亮氨酸的密码子突变,然后连接上一个6.5kb的Ckmm启动子区域。通过Northern blot和RT-PCR,确认了转基因表达以及内源性Cav3基因的表达情况。(来源:J:67174)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
2180562
(C57BL/Slc x DBA/Slc)F2
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1
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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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