ENU mutagenesis induced a G to T transition in exon 27 that results in the amino acid substitution of a stop codon for glutamic acid at position 924 (E924X). Western blot analysis confirmed the expression of a truncated protein. (J:170562)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count