The alternatively spliced variant of human Psen-1-374 and a tk-neo cassette were inserted into exon 9. Southern blot and PCR confirmed the mutant allele. Psen-1 mRNA was not detected by Northern blot analysis of mutant mice. Western blot detected no full length or truncated protein. (J:91975)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count