| Primary Identifier | MGI:1857114 | Allele Type | Spontaneous |
| Gene | Pax2 | Inheritance Mode | Semidominant |
| Strain of Origin | 102 | Is Recombinase | false |
| Is Wild Type | false |
| description | This spontaneous mutation was originally recovered in a (102 x C3H)F1 hybrid mouse. |
| molecularNote | The mutation comprises an insertion of a single guanosine residue in a series of seven guanosine repeats in the paired box region of the Pax2 gene, resulting in a frameshift leading to a translation termination codon 26 amino acids downstream. This is identical to a mutation observed in a human family with autosomal dominant renal-coloboma syndrome. |
