| Primary Identifier | MGI:1856711 | Allele Type | Spontaneous |
| Gene | Hps1 | Inheritance Mode | Recessive |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| description | Other alleles of this gene serve as models for HERMANSKY-PUDLAK SYNDROME. |
| molecularNote | This allele was identified by a noncomplementation test with Hps1ep. Direct DNA sequence analysis showed a complex 23 bp deletion/3 bp insertion in exon 17 of the Hps1 gene that introduced a translation terminator. In exon 19 there was a 7 bp duplication flanking an intracisternal A element with the long terminal repeats in the antisense transcriptional orientation. |
