| Primary Identifier | MGI:1856707 | Allele Type | Spontaneous |
| Gene | Hps3 | Inheritance Mode | Recessive |
| Strain of Origin | C57BL/10J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | The underlying mutation responsible for the phenotype in the cocoa mouse was identified as an A-to-T substitution in the intron 14-exon 15 splice acceptor site, changing it from TAG to TTG. With the endogenous acceptor eleminated, a cryptic splice site is utilized within exon 15, which results in a frameshift and premature termination. Northern analysis demonstrated qualitative and quantitative differences in mRNA between wild-type and homozygous mutant animals. |
