This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at nucleotide +6 following coding nucleotide 348 (c.348+6T>C, NM_021608) in intron 4. This may affect splicing from the nearby splice donor site. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dctn5b2b315Clo, 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