This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b1702Clo. The molecular lesion for this subline is an A to G single point mutation at coding nucleotide 442 in exon 3 of the cDNA (c.442A>G, NM_001160400). This changes the asparagine residue to aspartic acid at position 148 of the encoded protein (p.N148D). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Megf8b2b1702.2Clo, 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