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A transgenic insertion causing cryptorchidism in mice

A transgenic insertion causing cryptorchidism in mice 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 (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. genesis 30:26–35, 2001. © 2001 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Genesis: the Journal of Genetics and Development Wiley

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References (36)

Publisher
Wiley
Copyright
Copyright © 2001 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1526-954X
eISSN
1526-968X
DOI
10.1002/gene.1029
Publisher site
See Article on Publisher Site

Abstract

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 (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. genesis 30:26–35, 2001. © 2001 Wiley‐Liss, Inc.

Journal

Genesis: the Journal of Genetics and DevelopmentWiley

Published: May 1, 2001

Keywords: ; ;

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