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 1823 in exon 8 of the cDNA (c.1823T>C, NM_001114119). This changes the methionine residue to threonine at position 608 of the encoded protein (p.M608T). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Qrich1b2b2404Clo, 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