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Germ Cell Transplantation and Testis Tissue Xenografting in Mice
Published on: February 6, 2012
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
Summary
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:
- 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.
