This mutation, identified in an ENU mutagenesis screen, was determined to be an allele of this gene by its failure to complement the original situs inversus viscerum mutation. The molecular defect has been identified as a GA-to-GT transversion in the splice donor sequence at the end of exon 30, which results in splicing out of exon 30. (J:145068)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count