| Primary Identifier | MGI:1856981 | Allele Type | Spontaneous |
| Gene | Itpr1 | Inheritance Mode | Recessive |
| Strain of Origin | C57BLKS-Lepr<db-2J> | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | The molecular defect underlying the phenotype in the opisthotonus mouse involves a genomic deletion that alters the Itpr1 protein. The genomic deletion removes the first two exons from the mRNA, but does not disrupt the translational reading frame. The protein is reduced in expression and is predicted to have lost several modulatory sites. |
