Mice bearing this transgene express a truncated mouse prion protein (PRNP) lacking amino acids 32 through 121 under control of the regulatory elements of the Purkinje cell protein 2 (L7) gene. A cDNA encoding the modified PRNP and extending to the EcoR1 site in the 3' UTR was inserted into a cloned mouse genomic DNA segment containing the entire Pcp2 coding region, 4 kb of 5' flanking sequence and 2 kb of 3' flanking sequence. Insertion occurred at the BamH1 site in the fourth (third coding) exon, so the initial translation product has 80 amino acids of PCP2/L7 joined to its amino terminus; these presumably are removed with the PRNP N-terminal leader sequence. (J:47034, J:82809, J:83952, J:173517)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count