An R1788W (C to T) mutation in exon 22 and loxP-flanked neomycin cassette were knocked into the gene. In humans, the mutation is involved with the setting of hereditary cardiac arrhythmia. Cre-mediated recombination removed the selection cassette. Western blot analysis confirmed the reduced protein expression in the fat, liver, skeletal muscle, pancreatic beta cells, mouse embryonic fibroblasts and heart but not the brain. (J:222913)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129
Targeted
Insertion, Single point
--
1
3
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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