| 19122 |
P04925 |
PRIO_MOUSE |
Major prion protein (PrP) (PrP27-30) (PrP33-35C) (CD antigen CD230) |
DISRUPTION PHENOTYPE |
No visible phenotype. Mice develop chronic demyelinating polyneuropathy after 60 weeks. Mice show abnormally low iron levels throughout the body, and are mildly anemic. Iron accumulates in duodenum enterocytes, suggesting impaired transport from the intestine to the blood. Mice deficient for both Prnd and Prnp have the same phenotype as mice lacking Prnd; they are born at the expected Mendelian rate and appear grossly normal and healthy (PubMed:15161660, PubMed:15007175). Females are fertile, but males deficient for both Prnd and Prnp are sterile, in spite of normal mating behavior (PubMed:15161660, PubMed:15007175). Male sterility is due to impaired acrosome reaction (PubMed:15161660). Mutant sperm are able to fertilize oocytes in vitro, but many of the resulting embryos die before the morula stage (PubMed:15161660). Mutant sperm cells have elevated levels of DNA damage and DNA strand breaks, and this may be the cause for embryonic lethality (PubMed:15161660). Aging mice deficient for both Prnd and Prnp do not display loss of cerebellar Purkinje cells or develop ataxia, and do not develop neurological defects (PubMed:15007175). {ECO:0000269|PubMed:15007175, ECO:0000269|PubMed:15161660, ECO:0000269|PubMed:16492732, ECO:0000269|PubMed:19242475, ECO:0000269|PubMed:19568430, ECO:0000269|PubMed:20098419, ECO:0000269|PubMed:8035877, ECO:0000269|PubMed:8637886}. |