Exon 49被替换为一个,其中的核苷酸变异导致编码肽的第2473位氨基酸由arginine变为serine(替换为p.R2473S),这模拟了某些catecholaminergic polymorphic ventricular tachycardia(CPVT)患者发现的突变。插入到内含子48的floxed neo抗药性基因座通过cre介导的重组被移除,留下一个loxP位点。(来源:J:159451)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Targeted
Insertion, Nucleotide substitutions
--
1
8
6

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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