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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
Fbn2
fp-2J
Alias:
fp-2J
sy
fp-2J
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基础信息
表型特征
文献报道
这种突变涉及到Fbn2基因中的一个21个核苷酸的缺失,它移除了exon 38的最后7个核苷酸以及intron 38的14个核苷酸,包括splice donor序列。这种突变导致exon 38的异常跳过。(来源:J:68881)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
1935122
C.B10-H2b/LeMcdJ
Spontaneous
基因内删除
隐性
1
4
2
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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