Primary Identifier | MGI:6315233 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Npc1 |
Transmission | Germline | Strain of Origin | B6.Cg-Thy1<a> |
Is Recombinase | false | Is Wild Type | false |
molecularNote | Intron 9 of the mouse Npc1 gene was replaced with intron 9 of the human NPC1 gene containing the c.1554-1009G to A substitution. This incorporation generates a premature stop codon and a truncated protein. The results of western blot analysis indicate a faint band similar to the wild type protein in brain, and the absence of a band in liver. |