Primary Identifier | MGI:1856708 | Allele Type | Spontaneous |
Gene | Hps3 | Inheritance Mode | Recessive |
Strain of Origin | B10.BR/SgSnJ-H2<k2> Fas<lpr> | 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 coa3J mouse was identified as a 22 bp deletion between codons 474 and 481, which results in a frameshift. |