This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a G to A substitution at coding nucleotide 710 in exon 7 of the cDNA (c.710G>A, NM_001033548). This changes the glycine residue to aspartic acid at position 237 of the encoded protein (p.G237D). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnaaf3b2b1739Clo, 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