A recessive mutation causing imperforate vagina in mice

J Hered. 1989 Nov-Dec;80(6):478-82. doi: 10.1093/oxfordjournals.jhered.a110904.

Abstract

A recessive mutation (ipv) causing imperforate vagina was discovered in a line of mice selected for low lean tissue mass as a proportion of body weight. Two full sisters were found to have marked swelling of the perineum and complete closure of the vagina. Crosses of heterozygotes identified by progeny testing produced a female progeny ratio not different from the 3 normal: 1 affected (chi 2 = 0.695; p less than .3) expected on the basis of a recessive allele at a single autosomal locus. As a consequence of the imperforate vagina, the uterus and vagina were greatly distended by fluid. The uterus of affected females displayed a swollen uterine lumen and thin endometrial stroma and muscularis. Ovarian tissue of affected females was similar to that of normal mice, and affected females produced ova that were normal in appearance. The mutation causing an imperforate vagina may present a useful model for studying the basis of abnormal vaginal development in other species and increasing the understanding of normal vaginal development in the mouse.

MeSH terms

  • Animals
  • Crosses, Genetic
  • Female
  • Genes, Recessive
  • Male
  • Mice
  • Mice, Mutant Strains / genetics*
  • Phenotype
  • Random Allocation
  • Vaginal Diseases / genetics
  • Vaginal Diseases / pathology
  • Vaginal Diseases / veterinary*