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A transgenic insertion causing cryptorchidism in mice
Author(s) -
Overbeek Paul A.,
Gorlov Ivan P.,
Sutherland Richard W.,
Houston John B.,
Harrison Wilbur R.,
BoettgerTong Holly L.,
Bishop Colin E.,
Agoulnik Alexander I.
Publication year - 2001
Publication title -
genesis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.093
H-Index - 110
eISSN - 1526-968X
pISSN - 1526-954X
DOI - 10.1002/gene.1029
Subject(s) - biology , sterility , transgene , scrotum , mutant , gubernaculum , gene , phenotype , spermatogenesis , genetics , genetically modified mouse , anatomy , endocrinology
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.