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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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基因编辑小鼠
Pgap1
oto
Alias:
oto
xray
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基础信息
表型特征
文献报道
虽然cDNA序列中未发现突变,但Northern blot分析证实了成年突变组织和E10.5胚胎中Pgap1蛋白表达水平降低。mRNA长度正常,这表明变异影响了调控区域,从而抑制了转录(来源:151594)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
1856621
STOCK In(1)1Rk/J
Radiation induced
未定义
隐性
1
3
4
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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