Exon 45被替换成了一个,其中的核苷酸替换(CCC替换为TCT)导致了2328位氨基酸(Proline,P2328)被丝氨酸(Serine)替代,这模拟了某些catecholaminergic polymorphic ventricular tachycardia(CPVT)患者中发现的突变。下游的floxed neo cassette通过Cre介导的重组被去除了。(来源:J:186379)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S/SvEv
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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