This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at coding nucleotide 57 in exon 2 of the cDNA (c.57T>A, NM_027725). This changes the tyrosine residue to a translation stop at position 19 of the encoded protein (p.Y19*). Additional incidental mutations were detected in sequencing for the causative mutation, Daw1b2b1116Clo, and may be present in stocks carrying this mutation.
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count