A transgenic insertion causing cryptorchidism in mice

Genesis. 2001 May;30(1):26-35. doi: 10.1002/gene.1029.


A distinctive feature of gonadal maturation in mammals is the movement to an extraabdominal location. Testicular descent is a complex, multistage process whereby the embryonic gonads migrate from their initial abdominal position to the scrotum. Failure in this process results in cryptorchidism, a frequent congenital birth defect in humans. We report here a new mouse transgenic insertional mutation, cryptorchidism with white spotting (crsp). Males homozygous for crsp exhibit a high intraabdominal position of the testes, associated with complete sterility. Heterozygous males have a wild-type phenotype, and homozygous females are fertile. Surgically descended testes in crsp/crsp males show normal spermatogenesis. Using FISH and genetic analyses, the transgenic insert causing the crsp mutation has been mapped to the distal part of mouse chromosome 5. Transgene integration resulted in a 550-kb deletion located upstream of the Brca2 gene. A candidate gene encoding a novel G protein-coupled receptor (Great) with an expression pattern suggesting involvement in testicular descent has been identified.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Chromosome Mapping
  • Contig Mapping
  • Cryptorchidism / genetics*
  • Disease Models, Animal
  • Female
  • Gene Deletion
  • Homozygote
  • In Situ Hybridization, Fluorescence
  • Infertility
  • Male
  • Meiosis
  • Mice
  • Mice, Transgenic*
  • Models, Genetic
  • Molecular Sequence Data
  • Mutation
  • Phenotype
  • Pigmentation / genetics
  • Protein Structure, Tertiary
  • Receptors, Cell Surface / chemistry
  • Receptors, Cell Surface / genetics
  • Receptors, G-Protein-Coupled*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Homology, Amino Acid
  • Spermatogenesis / genetics
  • Testis / physiology
  • Tissue Distribution
  • Transgenes


  • Receptors, Cell Surface
  • Receptors, G-Protein-Coupled
  • relaxin receptor 2, mouse