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)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count