在exon 4的第91位,通过插入两个突变(CGA替换为TGG),引入了arginine到tryptophan的错义突变(R91W)。为了定位目的,还插入了内含子6的floxed Neo抗性基因座。创始小鼠与删除小鼠杂交以去除Neo抗性基因座,留下一个loxP位点。根据视网膜提取物的Western印迹,突变蛋白水平相对于野生型对照减少了95%。(来源:J:130076)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
插入
--
1
13
18

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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