An NSL-Betagal-pA cassette and a PGK-neo-bGHpA cassette replaced 700 bp, including all but 9 bp of exon 2. Exon 2 encodes both the DNA-binding and dimerization active sites. RT-PCR of mutant brain, liver and lung samples indicated the absence of wild type transcript. An aberrantly spliced 152-bp amplicon was present in mutants in low abundance, putatively containing exon 1 spliced directly to exon 3 that would encode a 35 amino acid peptide terminating in exon 4. (J:96006)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count