Exons 1 and 2 were deleted via FLP mediated recombination. This sequence contained the ATG and encodes the first 301 amino acids of the protein and both WWE repeats. The presence of a truncated transcript was confirmed by Northern blot analysis of splenocytes. (J:114658)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count