Sequencing of mutant genomic DNA revealed the presence of a single murine leukemia virus long terminal repeat (MLV LTR) insertion of 560 bp within the eighteenth intron. Northern blot and RT-PCR analysis detected an aberrant transcript that retains intron 18 and the LTR, and introduces a TAG translational stop codon in intron 18. However, a correctly spliced WT transcript is also produced at low abundance suggesting that this allele acts as a hypomorph. A noncomplementation test with a null allele of this gene further confirmed that the insertion is the cause of the mutant phenotype. (J:158873)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count