设计了一个靶向载体,用于在第9外显子插入GGA到CGA的突变,产生G418位点的甘氨酸替换为精氨酸(G418R),并包含一个克隆敲除的诺卡因抗性基因。通过Cre介导的重组,去除了这个克隆的诺卡因抗性。小鼠的G418R突变类似于人类酒窝婴儿中常见的G420R变异。(来源:J:221901)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion, Single point
--
1
1
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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