The spontaneous mutation that arose on a 129 background results in the generation of 2 aberrantly spliced transcripts that lack exon 4 and are putatively translated into nonfunctional polypeptides. The mutation suppresses the use of the splice donor site located at the beginning of intron 3 and enables the utilization of cryptic splice sites located in intron 3 resulting in the splicing of intron 3 to exon 5. (J:85189)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count