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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
Adamts20
bt-Bei1
Alias:
bt
bei
bt
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基础信息
表型特征
文献报道
这只老鼠被确认为bt基因座的一个等位基因,因为它无法补救已知的bt突变小鼠。突变是在位置2860由C变为T的转换,产生了一个早发性终止密码子。这导致了一个截短的蛋白质,缺少了471个C端氨基酸。(来源:J:84755)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
2673334
C57BL/6J-ple
Spontaneous
单点
隐性
1
--
9
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
No Data Found!
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