This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at position 1343 of the cDNA (c.1343T>A, NM_027915). This changes the methionine residue to lysine at position 448 of the encoded protein (p.M448K). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Ap2b1b2b2321Clo, 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