ENU-mutagenesis induced a T to A transversion at position 3147 in the second nucleotide of intron 2. This mutation causes skipping of exon 2 and results in a frameshift upon splicing of exon 1 to exon 3. A premature stop codon following 27 aberrant amino acids encoded by exon 3 and part of exon 4 is expected to cause nonsense-mediated decay of the transcript. (J:185495) Additional incidental mutations were detected in sequencing for the causative mutation, Ruvbl2M1Btlr, 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