Alternative splicing of the endogenous locus yields a transcript that includes exon 5a and encodes a protein with an additional 14 residues. Isoform-specific ablation was achieved by the replacement of exon 5a with a single loxP site. Transcript including exon 5a was undetected by RT-PCR analysis of homozygous mutant mice, which also showed the presence of the endogenous transcript that lacks exon 5a. (J:76576)
Basic Information
Disruption caused by insertion of vector
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count