This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T-to-A single point mutation at position 13210 of the cDNA (c.T13210A, NM_133365) that is predicted to cause a serine to threonine amino acid substitution at position 4404 of the encoded protein (p.S4404T). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah5b2b1565Clo, 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