This spontaneous mutation is a genomic deletion that includes alternative exon 2 and is predicted to cause a truncating mutation in the longest Nedd4l isoform. Imunoblotting, using antipeptide antisera that recognizes a conserved epitope, identified two Nedd4l isoforms in the wild-type kidney, one approximately 115 kDa, the other 101 kDa. A transcript for the longer isoform is not detected in mice homozygous for this mutant allele. (J:165173)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count