在第7外显子中,一个c.896G>A的突变被构建,将arginine的密码子299替换为glutamine的密码子(p.Arg299Gln)。这个突变等同于人类的R302Q变异,它导致未经刺激时活动增加,并与心脏表型关联。在第6内含子中插入了一个FRT(Flp翻转子)旁的诺卡因抗性基因座,随后通过Flp介导的重组移除。此外,loxP序列被分别插入在突变位置内6的上游和下游,以及内含子7的下游。参考文献:J:235379, J:256296

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S/SvEv
Targeted
Insertion, Single point
--
1
6
4

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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
微信
信息比对
科研助手
使用教程
回到顶部