| Primary Identifier | MGI:1857409 | Allele Type | Spontaneous |
| Gene | Npc1 | Inheritance Mode | Recessive |
| Strain of Origin | BALB/c | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | 824 bp of MaLR retroposon-like DNA replaced 703 bp of wild-type genomic sequence spanning 44 bp of an exon and 659 bp of the downstream intron. The insertion results in premature truncation of the protein deleting 11 out of 13 transmembrane domains. Northern blot analysis revealed marked decrease in gene expression in liver and brain from homozygous mutant animals. |
