Transcripts produced from this allele show abnormal splicing and are predicted to produce a truncated protein. Sequence analysis revealed that the larger scrambler transcript contains 1.5 kb of intracisternal A particle retrotransposon (IAP) sequence in antisense orientation. Previous mapping studies detcted an IAP particle that failed to recombine with the Dab1 locus. Thus, it appears that abberrant splicing has incorporated the IAP element in the coding region of the gene. (J:42628, J:43504)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count