This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a G to T substitution at coding nucleotide 482 in exon 5 of the cDNA (c.482G>T, NM_001033217). This changes the cysteine residue to phenylalanine at position 161 of the encoded protein (p.C161F). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Prickle1b2b019Clo, 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