| Primary Identifier | MGI:5641735 | Allele Type | Targeted |
| Attribute String | Conditional ready, Humanized sequence | Gene | Npc1 |
| Transmission | Germline | Strain of Origin | 129 |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | A loxP site was inserted into intron 13, and an FRT-flanked neomycin resistance cassette followed by a second loxP site into intron 20. A c.3179T>C point mutation was introduced in exon 21 at codon 1060, resulting in an isoleucine to threonine substitution (p.I1060T) in the encoded protein that mimics the I1061T mutation commonly found in humans with Niemann-Pick type C1 (NPC1) disease. Flp-mediated recombination removed the neo cassette leaving exons 14-20 floxed. |
