Exon 2 was disrupted by insertion of a neomycin cassette. Gene inactivation was confirmed by no signal in immunoblot analysis of homozygote heart, brain and skeletal muscle extracts. (J:151101)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count