A loxP site was inserted upstream of exon 1 and a PGK-neo cassette and loxP site were inserted downstream of exon 1 via homologous recombination. Cre mediated recombination removed exon 1 and the neo cassette. An alternative transcript expressed from exon 1b is detected in the brains, but not the hearts, of homozygous mice. (J:243471, J:268937)
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