This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to G substitution at coding nucleotide position 6641 in exon 41 of the cDNA (c.6641T>G, NM_010060). This changes the leucine residue to arginine at position 2214 of the encoded protein (p.L2214R). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah11b2b2349Clo, 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