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 371 in exon 3 of the cDNA (c.371T>C, NM_080849). This changes the isoleucine residue to threonine at position 124 of the encoded protein (p.I124T). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Nek8b2b1449Clo, 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