A PGK-neo cassette was inserted into exon 1 by homologous recombination. The insertion of neo downstream of the signal peptide deleted 14 nt (268-282) of the proteoglycan domain and caused a frameshift mutation. RT-PCR analysis of homozygous mutant mice identified a frame shifted transcript lacking 5' sequence encoding the signal peptide and most of the proteoglycan domain. Though the mutant transcript contained 77 nt of the neo cassette, a 3' portion of exon 1, and all of exons 2 through 11, protein was undetected by Western blot analysis of stomach tissue. (J:80329)
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