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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
Rb1
tm2.1Jyjw
Alias:
Rb1
N750F
Rb1
NF
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基础信息
表型特征
文献报道
使用了针对exon 22的靶向载体,替换第750位的苯丙氨酸为天冬氨酸,这是一个预测会阻碍LXCXE结合凹槽空间的大型氨基酸。Southern blot结果显示了重组的成功。对突变纤维细胞的分析证实了蛋白质水平与野生型细胞相当。与在生殖细胞中表达Cre重组酶的 mice杂交移除了载体中包含的 floxed neo序列。(来源:J:151417)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
4354271
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
14
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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