This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a C to T substitution at coding nucleotide 826 in exon 7 of the cDNA (c.826C>T, NM_011265). This changes the glutamine residue to a translation stop at position 276 in the encoded protein (p.Q276*). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Rfx3b2b1213Clo, 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