The gene was disrupted by replacing most of exon 6, intron 6, the cardiac-specific first exon and promoter, and exon 7 with a neomycin resistance gene. Expression of both the cardiac specific- short isoform and the long isoform of the gene were eliminated in homozygote mice as determined by western blots of retinal extracts. (J:129363, J:143125)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count