Primary Identifier | MGI:1858033 | Allele Type | Spontaneous |
Gene | Hps3 | Inheritance Mode | Recessive |
Strain of Origin | B10.A-H2<a> H2-T18<a>/SgSnJ | Is Recombinase | false |
Is Wild Type | false |
description | Other alleles of this gene serve as models for HERMANSKY-PUDLAK SYNDROME. This allele was never studied in this context. |
molecularNote | The underlying mutation responsible for the phenotype in the coa5J mouse was identified as an A-to-T substitution. This mutation creates a stop codon, fom a lysine codon at position 627 (p.K627*). |