A targeting vector was used to introduce an R4496C mutation into exon 94 of the locus. The mutation is the mouse equivalent to the R4497C mutations identified in CPVT families. LoxP sites were inserted to flank the exon. (J:109683)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129/Sv
Targeted
Insertion, Nucleotide substitutions
--
1
8
17

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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