Primary Identifier | MGI:5585301 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Ppt1 |
Transmission | Germline | Strain of Origin | 129S6/SvEvTac x C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
molecularNote | A targeting construct was designed to insert a C to T point mutation in exon 5 of the gene, resulting in a non-sense mutation, R151X, commonly found in humans with neuronal ceroid lipofuscinoses (NCLs). A loxP- and frt-flanked neomycin (neo) resistance cassette was inserted downstream of exon 5. Cre-mediated recombination removed the floxed neomycin cassette. |