A targeting vector was used to replace exon 4 with a PGK-neo cassette with a transcriptional stop codon. Exon 4 sequences were not expressed in mutants, however, both upstream and downstream exons were expressed. RT-PCR and sequencing showed that exon 3 was spliced directly to exon 5, excluding the intervening neo cassette. (J:107441)
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