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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(ATXN2*72Q)#Plt
Alias:
ATXN2-Q72
BAC-Q72
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基础信息
表型特征
文献报道
一个169kb的人类BAC(RP11-798L5)被构建,包含了整个150kb的人类ATXN2基因座,包括调控区域,目的是替换原有人类ATXN2的exon-1 CAG22序列,替换为CAG72重复序列。定量PCR结果显示,转录基因以四拷贝的形式成功整合。RT-PCR在中枢神经系统(包括大脑半球、小脑和脊髓)以及非中枢神经系统组织(如心脏和肝脏)中都确认了转录本的表达。 Western blot也证实了蛋白的表达。当未指明具体线或合并线时,使用#符号表示。参考文献为(J:224692)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
5697198
FVB/N
--
Insertion, Nucleotide repeat expansion
--
1
--
3
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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