This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at coding nucleotide 5503 in exon 34 of the cDNA (c.5503T>C, NM_133365). This changes the tryptophan residue to arginine at position 1835 in the encoded protein (p.W1835R). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah5b2b1003Clo, 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