4.0 kb of sequence, including the first coding exon (exon 2), was deleted and replaced with a neomycin selection cassette. Northern blot and RT-PCR analyses detected aberrantly spliced transcript, in which exon 1 had spliced directly to exon 3, in homozygous mutant mice. Protein encoded from the aberrant transcript was undetected via Western blot analysis. (J:62312)
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