| Primary Identifier | MGI:3799687 | Allele Type | Chemically induced (ENU) |
| Gene | Bloc1s5 | 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 progeny of an ENU-mutagenized male mouse, was mapped to Chromosome 13 and has been identified as a T-to-A transversion at nucleotide position 4028 of the gene (Genbank genomic region NC_000079). The mutation is in the first intron, seven nucleotides upstream from the beginning of exon 2, and impairs the acceptor splice site of intron 1. |
