ENU mutagenesis induces a two base pair deletion in exon 31. The resulting frame shift disrupts all three isoforms with isoform A containning 46 and isoforms B and S containing 43 novel amino acids before premature truncation. (J:158418)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count