A transgenic insertion causing cryptorchidism in mice

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Abstract

<jats:title>Abstract</jats:title><jats:p>Summary: 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 (<jats:italic>crsp</jats:italic>). Males homozygous for <jats:italic>crsp</jats:italic> 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 <jats:italic>crsp/crsp</jats:italic> males show normal spermatogenesis. Using FISH and genetic analyses, the transgenic insert causing the <jats:italic>crsp</jats:italic> mutation has been mapped to the distal part of mouse chromosome 5. Transgene integration resulted in a 550‐kb deletion located upstream of the <jats:italic>Brca2</jats:italic> gene. A candidate gene encoding a novel G protein‐coupled receptor (<jats:italic>Great</jats:italic>) with an expression pattern suggesting involvement in testicular descent has been identified. genesis 30:26–35, 2001. © 2001 Wiley‐Liss, Inc.</jats:p>

Journal

  • genesis

    genesis 30 (1), 26-35, 2001-05

    Wiley

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