| Primary Identifier | MGI:3799709 | Allele Type | Chemically induced (ENU) |
| Gene | Hps3 | Inheritance Mode | Recessive |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false | Project Collection | Beutler Mutagenetix |
| description | Other alleles of this gene serve as models for HERMANSKY-PUDLAK SYNDROME. Mutants for the present allele have not been studied in this context. |
| molecularNote | This mutation, discovered among G3 progeny of an ENU-mutagenized male mouse, was mapped to Chromosome 3 and identified as a T-to-A transversion at nucleotide position 1815 of the gene, in the tenth of 17 total exons. It is predicted to truncate the protein after amino acid 599; if this abbreviated protein is expressed, it would retain the clathrin-binding domain and the majority of the tyrosine-based intracellular sorting signals. |
