This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b1468Clo. The molecular lesion for this subline is a T to C substitution at coding nucleotide 1886 in exon 13 (c.1886T>C, NM_012018). This changes the isoleucine residue to threonine at position 629 in the encoded protein (p.I629T). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Cntrlb2b1468.1Clo, 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