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 197 in exon 3 of the cDNA (c.197T>C, NM_027725). This changes the leucine residue to a proline at position 66 of the encoded protein (p.L66P). Additional incidental mutations were detected in sequencing for the causative mutation, Daw1b2b1584Clo, 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