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 position 1094 in exon 9 of the cDNA (c.1094T>C, NM_007454). This changes the valine residue to alanine at position 365 of the encoded protein (p.V365A). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Ap1b1b2b1660Clo, 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