Primary Identifier | MGI:5901874 | Allele Type | Targeted |
Attribute String | Humanized sequence, Hypomorph | Gene | Tpp1 |
Transmission | Germline | Strain of Origin | 129 x C57BL/6 |
Is Recombinase | false | Is Wild Type | false |
molecularNote | The targeting vector is designed to insert an FRT-flanked neomycin (neo) resistance cassette downstream of exon 6 of the gene. A C to T transition was introduced in exon 6, corresponding to human amino acid 208, resulting in a nonsense mutation, R207X, commonly found in patients with late infantile Neuronal Ceroid Lipofuscinoses (NCL) or Batten disease. Flp-mediated recombination removed the FRT-flanked neo cassette. |