ENU mutagenesis induced an G to T transition in exon 63 that resulted in a premature termination codon. The presence of a truncated protein lacking the C-terminal RING finger domain was confirmed by western blot analysis. (J:132726)
Basic Information
(BALB/c x C57BL/6)F1 X DBA/2J
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count