This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b811Clo. The molecular lesion for this subline is a T to A substitution at coding nucleotide 2 in exon 1 (c.2T>A, NM_001163725). This changes the methionine translation start residue to lysine at position 1 in the encoded protein. Additional incidental mutations were detected in sequencing for the causative mutation, Dnaaf4b2b811.1Clo, 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