This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to G substitution at coding nucleotide 2021 in exon 15 of the cDNA (c.2021A>G, NM_001033460). this changes the tyrosine residue to cysteine at position 674 of the encoded protein (p.Y674C). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Drc1b2b1654Clo, 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