A thymidine in position c.1086 was inserted in exon 5 and an FRT-flanked PGK-neomycin selection cassette was inserted in intron 4. This insertion is equivalent to human c.1212InsT seen in a familial case of arrhythmogenic cardiomyopathy. The neomycin cassette was removed via flp-mediated recombination. (J:339263)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count