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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
Gabra2
tm1.1Uru
Alias:
alpha2(H101R)
mutant allele 1
alpha2
R
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基础信息
表型特征
文献报道
这个等位基因是由携带Gabra2tm1Uru的小鼠与通过EIIa启动子表达Cre重组酶的转基因小鼠杂交产生的。研究中,内含子3中的neomycin替换单位被剔除了,而101位点的点突变,由 Histidine 改为 Arginine,保持不变。 Western blot结果显示,这个替换并未影响蛋白质的表达。脑横切片的 autoradiographs 显示了内源性蛋白表达区域出现新的对 diazepam 不敏感的区域,这表明了药物结合位点的功能受损。(来源:J:65100)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
2183163
129P2/OlaHsd
Targeted
Insertion, Nucleotide substitutions
--
1
3
14
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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