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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
Pmm2
tm1.1Jins
Alias:
Pmm2
F115L
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基础信息
表型特征
文献报道
第五外显子被替换为一个,其中的核苷酸替换导致第115位氨基酸由酪氨酸替换为苯丙氨酸( F115L)。在第五外显子上游插入了一个含loxP标记的诺卡因抗性基因座。通过Cre介导的重组移除了neo基因座。(来源:J:236704)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5811780
129S6/SvEvTac
Targeted
Insertion, Single point
--
1
9
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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