This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The causitive molecular lesion for the cardiovascular phenotypes is a C to T substitution at coding nucleotide postition 3184 in exon 16 of the cDNA (c.3184C>T, NM_010060). This changes the glutamine residue to a stop codon at position 1062 in the encoded protein (p.Q1062*). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah11b2b598Clo, 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