Exon 43 was replaced with one in which nucleotide substitutions result in the amino acid substitution of serine with leucine at position 2245 in the encoded peptide (p.S2245L), mimicking a mutation found in some catecholaminergic polymorphic ventricular tachycardia patients. The floxed neomycin resistance gene cassette that was inserted into intron 43 was removed by cre-mediated recombination. (J:186291)

Basic Information

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