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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
Sgpp2
tm1Rlp
Alias:
Sgpp2
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基础信息
表型特征
文献报道
一种诺他霉素选择座舱替换了包含3号和4号外显子的基因组片段。同源纯合小鼠的多种组织中,通过定量实时PCR检测未发现可检测到的转录本。同源突变型肺组织的膜部分中,总硫酸鞘脂-1-磷酸酶(SPPase)酶活性大约减少了30%。(来源:J:235035)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5823275
129S6/SvEvTac
Targeted
插入,基因内删除
--
1
--
1
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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