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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
Malt1
tm1.1Geno
Alias:
Malt1
PD
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基础信息
表型特征
文献报道
在一段经过修改的第12号外显子上游,插入了一个带有5' loxP位点的FRT引导的诺卡因抗性 cassette。这个cassette中的碱基替换(TGT替换为GCC),导致第472位的氨基酸从丝氨酸变为胱氨酸(C472A),从而失去了酶活性。通过Flp介导的重组,这个选择性 cassette被移除,留下的修改过的第12号外显子具有loxP标记。来源:(J:235331)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5805283
Not Specified
Targeted
Insertion, Nucleotide substitutions
--
1
4
3
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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