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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
Lpl
tm1Sem
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基础信息
表型特征
文献报道
第八外显子,编码对于催化活性至关重要的COOH端域,因插入了诺卡因选择标记基因座而受到干扰。心脏组织的生化试验显示,杂合子小鼠的心脂酶活性显著降低,纯合子突变鼠中几乎不具活性。(来源:J:25652)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
2429315
129P2/OlaHsd
Targeted
插入
--
1
4
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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