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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
Bmf
tm2.1Rjd
Alias:
Bmf
S74D
Bmf
SD
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基础信息
表型特征
文献报道
在 intron 3 内插入了一个带有floxed neo cassette,通过同源重组在exon 3引入了特定的核苷酸突变。这种突变导致JNK蛋白激酶的磷酸化位点(Ser-74)被Asp(S74D)替换。随后,neo cassette通过Cre介导的重组被剔除,留下一个在intron 3中的单个loxP位点。(来源:J:153652)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
4421179
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
--
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
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