Oca2^p-6H
Radiation induced Allele Detail

Summary

• Symbol: Oca2^p-6H
• Name: oculocutaneous albinism II; pink-eyed dilution 6 Harwell
• MGI ID: MGI:1856125
• Synonyms: Herc2^p-6H, p^6H
• Gene: Oca2 Location: Chr7:55889508-56186266 bp, + strand Genetic Position: Chr7, 33.44 cM
• Alliance: Oca2^p-6H page

Mutation origin

• Strain of Origin: (C3H/HeH x 101/H)F1

Mutation description

• Allele Type: Radiation induced
• Mutation: Deletion
• Oca2^p-6H involves 2 genes/genome features (Herc2, Oca2) View all
• Mutation details: 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. (J:11138, J:100221)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:

3 assay results

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Oca2 Mutation: 67 strains or lines available

Notes

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).

References

• Original: J:15082 Phillips RJS, Description of the phenotypes of p-alleles (other than p) held at Harwell. Mouse News Lett. 1977;56:38
• All: 17 reference(s)