This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at coding nucleotide position 2 in exon 1 of the cDNA (c.2T>A, NM_026222). This changes the methionine translation start residue to lysine at position 1 of the encoded protein (p.M1K). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Ccdc39b2b1304Clo, 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