This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a C to A substitution at coding nucleotide 2755 in exon 19 of the cDNA (c.2755C>A, NM_133365). This changes the histidine residue to asparagine at position 919 of the encoded protein (p.H919N). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah5b2b1154Clo, and may be present in stocks carrying this mutation.
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count