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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
Gabrg2
tm1Spet
Alias:
Gabrg2
R43Q
gamma2(R43Q)
Gabrg2
tmSpet
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基础信息
表型特征
文献报道
编码区域被替换为一个包含导致第43位氨基酸由谷氨酰胺替换为赖氨酸(R43Q)的替换,4个未识别的silent突变,以及一个被Cre介导的重组后去除的floxed neo cassette。通过总脑匀浆的RT-PCR分析确认了表达水平正常。通过E16脑组织提取物的Western blot实验,证实了蛋白产物的减少。这个突变是通过Gabrg2tm2Spet. (J:127120)产生的。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3764923
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Nucleotide substitutions
--
1
8
8
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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