Npc1^tm2Tacf

The deletion of G at c.1920 (originally identified in a human Niemann-Pick disease type C (NPC) patient) and a stop codon in the position where translation terminates in the human NPC1 gene variant are introduced to mouse exon 12. This mutation is situated at the beginning of the SSD domain (important for cholesterol binding), and creates a premature stop codon that yields a truncated protein due to a frameshift. (J:266795)