Embryos recovered from cryopreservation will carry either the Oca2p-d mutant allele or the Oca2p-6H mutant allele.
Mice carrying the X-irradiation induced Oca2p-6H mutant allele are described as being viable, but are small sized with a jerky gait. Viable males are sterile and females are poor breeders.
Mice carrying the X-irradiation induced Oca2p-d mutant allele are described as being viable, normal size, and both sexes fertile.
The phenotype for this strain carrying both recessive pink-eye mutants is unavailable.
Embryos from males heterozygous for the two recessive pink-eye mutant alleles mated to C57BL/6J females were cryopreserved in 1982 at generation N2F13N1.
|Allele Name||pink-eyed dilution 6 Harwell|
|Allele Type||Radiation induced|
|Allele Synonym(s)||Herc2p-6H; p6H|
|Gene Symbol and Name||Oca2, oculocutaneous albinism II|
|Strain of Origin||(C3H/HeH x 101/H)F1|
|General Note||This mutation arose in descendants of x-ray treated mice (J:15082). Homozygotes resemble p/p mice in eye and coat color, but are small and show a nervous, jerky behavior (J:13720). No dental abnormalities are found. 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).|
|Molecular Note||Southern hybridization of a 0.39 kb probe, derived from retroviral-like intracisternal particle sequence, to genomic DNA showed that p-region sequence is deleted in homozygous mutant mice. The first 624 amino acids are encoded in the neighboring predicted Herc2 protein, but are then followed by 27 novel amino acids and a premature termination site from an IAP element. The remaining carboxy terminal 4212 amino acids of the Herc2 protein are lost.|