Cre mediated recombination resulted in the loss of a 1060-bp fragment containing exon 4 and a PGK-hygro cassette. RT-PCR failed to detect the 712-bp wild-type transcript, but did detect a 497-bp product. Sequencing revealed the predicted splicing of exon 3 to exon 5, resulting in a shift in the ORF in exon 5 that created a stop codon 30 nucleotides downstream. The transcript encodes a truncated protein missing 621 of the 713 amino acids in the normal protein. The J1 ES cell line used to create this allele also carries a homozygous truncation of the Poli gene. (J:105034)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count