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A transgenic insertion causing cryptorchidism in mice.

P A Overbeek1, I P Gorlov, R W Sutherland

  • 1Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, USA.

Genesis (New York, N.Y. : 2000)
|May 16, 2001
PubMed
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A new mouse mutation, cryptorchidism with white spotting (crsp), causes undescended testes and sterility in males. The mutation is linked to a deletion near the Brca2 gene, implicating a novel G protein-coupled receptor in testicular descent.

Area of Science:

  • Developmental biology
  • Genetics
  • Mammalian reproduction

Background:

  • Testicular descent is a crucial process for male fertility in mammals.
  • Failure of testicular descent leads to cryptorchidism, a common human birth defect.

Purpose of the Study:

  • To identify the genetic basis of a novel mouse mutation affecting testicular descent.
  • To investigate the molecular mechanisms underlying cryptorchidism.

Main Methods:

  • Generated a transgenic mouse model with an insertional mutation (crsp).
  • Utilized fluorescence in situ hybridization (FISH) and genetic mapping to locate the mutation.
  • Performed surgical descent and histological analysis of testes.

Main Results:

Related Experiment Videos

  • Homozygous crsp males exhibit intraabdominal testes and sterility; heterozygous males and homozygous females are fertile.
  • Surgically descended testes in crsp/crsp males show normal spermatogenesis.
  • The mutation is caused by a 550-kb deletion upstream of Brca2 on mouse chromosome 5, identifying a novel G protein-coupled receptor (Great) as a candidate gene.

Conclusions:

  • The crsp mutation provides a new model for studying cryptorchidism and testicular descent.
  • A novel G protein-coupled receptor (Great) is implicated in the complex process of testicular descent.