title: High incidence of uterine inversion in mast cell-deficient osteopetrotic mutant mice of mi/mi genotype.
abstract: Mutations at either W or mi (microphthalmia) loci in the mouse can lead to a deficiency in melanocytes and mast cells. In addition, W mutants can be anemic and sterile, whereas mi mice are osteopetrotic because of a monocyte/macrophage/osteoclast defect. Since c-kit receptor tyrosine kinase is the gene product of the W locus and mi mutation has been suggested to affect the transduction of signals from the c-kit and c-fms receptors, we here examined the effect of mi mutation on fertility. Testes and ovaries from mi/mi mice were histologically normal, and the pattern of c-kit protein expression was not different from that of +/+ mice. Homozygous mutant crosses (mi/mi x mi/mi) were fertile, but inversion of the uterus occurred in 86% of the deliveries. In some cases, the placenta was found still attached to the inverted uterus after delivery. Decidual cells were present and expressed c-kit protein normally in the placenta of mi/mi mice. The inversion was also observed in mi/mi females mated to +/+ males. No uterine inversion was noted when +/mi females were crossed with mi/mi or +/mi males, suggesting that the genotype of the mother but not of the father or fetus is important for the pathogenesis. The numbers and body weights of mi/mi newborns were less than those of +/mi littermates. Mast cells were absent, but c-kit-positive cells were present, in the uterine muscle layers of pregnant mi/mi mice.(ABSTRACT TRUNCATED AT 250 WORDS)
authors.affiliation: Department of Clinical Molecular Biology, Faculty of Medicine, Kyoto University, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Yokoi
authors.forename: H
authors.initials: H
authors.lastname: Nakayama
authors.forename: K
authors.initials: K
authors.lastname: Horie
authors.forename: M
authors.initials: M
authors.lastname: Fukumoto
authors.forename: K
authors.initials: K
authors.lastname: Fujita
authors.forename: Y
authors.initials: Y
authors.lastname: Kaneko
authors.forename: M
authors.initials: M
authors.lastname: Iwai
authors.forename: S
authors.initials: S
authors.lastname: Natsuyama
authors.forename: H
authors.initials: H
authors.lastname: Kanzaki
authors.forename: K J
authors.initials: KJ
authors.lastname: Mori
mesh_terms: D000818:Animals; D005260:Female; D005838:Genotype; D007246:Infertility / Q000235:genetics; D007743:Labor, Obstetric; D008297:Male; D008407:Mast Cells / Q000473:pathology*; D051379:Mice; D008809:Mice, Inbred C3H; D008817:Mice, Mutant Strains; D009154:Mutation; D010022:Osteopetrosis / Q000235:genetics* / Q000473:pathology; D010053:Ovary / Q000378:metabolism; D010920:Placenta / Q000473:pathology; D011247:Pregnancy; D011518:Proto-Oncogene Proteins / Q000235:genetics / Q000502:physiology; D019009:Proto-Oncogene Proteins c-kit; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics / Q000502:physiology; D016186:Receptor, Macrophage Colony-Stimulating Factor / Q000235:genetics / Q000502:physiology; D016184:Receptors, Colony-Stimulating Factor / Q000235:genetics / Q000502:physiology; D015398:Signal Transduction; D013737:Testis / Q000378:metabolism; D014591:Uterine Diseases / Q000235:genetics* / Q000473:pathology; D014599:Uterus / Q000473:pathology
chemical_list: D011518:Proto-Oncogene Proteins; D016184:Receptors, Colony-Stimulating Factor; D019009:Proto-Oncogene Proteins c-kit; D020794:Receptor Protein-Tyrosine Kinases; D016186:Receptor, Macrophage Colony-Stimulating Factor