This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a G to A substitution at nucleotide +1 after coding nucleotide 112 (c.112+1G>A, NM_001081174) in intron 1. This changes splice donor site G-GT to G-AT (which is assumed to be inactive). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Cplane2b2b2827Clo, 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