| Primary Identifier | MGI:1856115 | Allele Type | Radiation induced |
| Gene | Oca2 | Inheritance Mode | Recessive |
| Strain of Origin | Not Specified | Is Recombinase | false |
| Is Wild Type | false |
| description | pbs, pink-eyed dilution-black-eyed sterile (formerly p24H); recessive; 960-BP DEL; 320 AA DEL: Arose in descendants of neutron treated mice (J:15082, J:2108). Homozygotes have dark eyes at birth. The coat color in adults is slightly lighter than pd but darker than pdn. At weaning, homozygotes show a slightly jerky behavior (J:15082, J:13043). Males are sterile, with a high proportion of abnormal sperm (multinucleated, multitailed, and acrosomal defects) and a reduced proportion of gonadotropic cells in the pituitary (J:49046, J:5219, J:5808). The sperm shows a loss of negative charge along the whole length of the tail (defined by the inability to stain with the positively charged colloidal iron hydroxide), suggesting that the defect in spermatogenesis may involve the Golgi apparatus and/or plasma membrane (J:11957). Females have greatly reduced fertility, with an increased proportion of polyovular follicles and no corpora lutea (J:5501). Mutant females can generally produce a small, first litter, but the pups often die neonatally due to poor maternal behavior, which may involve improper nesting (J:49046). |
| molecularNote | Southern blot analyses using cDNA probes from the pink-eyed dilution locus show that this allele comprises a 5' rearrrangement in the p gene. An intergenic deletion of 960-bp near the carboxy terminus of Herc2 deletes a stretch of 320 amino acids from the predicted protein, including the HECT domain. The overall deletion for this p-region mutant is ~8.0-kb. |
