Genetic analysis of testis weight and fertility in an interspecies hybrid congenic strain for Chromosome X

• Published in: Mammalian genome Vol. 12; no. 1; pp. 45 - 51
• Main Authors: Elliott, R W, Miller, D R, Pearsall, R S, Hohman, C, Zhang, Y, Poslinski, D, Tabaczynski, D A, Chapman, V M
• Format: Journal Article
• Language: English
• Published: United States Springer Nature B.V 01.01.2001
• Subjects: Alleles; Animals; Borjeson-Forssman-Lehman syndrome; Chromosome Mapping; Crosses, Genetic; Female; Fertility - genetics; Genetic Variation; Genetics; Ihtw1 gene; Male; Mice; Mice, Congenic; Mice, Inbred C57BL; microorchidism; Mus musculus; Mus spretus; Organ Size; Phenotype; Testis - anatomy & histology; X Chromosome - genetics
• ISSN: 0938-8990; 1432-1777
• DOI: 10.1007/s003350010234

A hybrid congenic strain, C57BL/6J.SPRET-Hprt(a), carrying 17 map units of Chromosome (Chr) X from Mus spretus on a background of C57BL/6J. has the novel phenotype of low fertility associated with small testis weight. In histological cross-section, many of the tubules in the testes of these congenic mice are empty except for Sertoli cells, while the other tubules appear to be normal. The gene, interspecific hybrid testis weight 1 (Ihtw1) causing this phenotype, has been fine mapped by using the strategy of generating subcongenic strains from recombinants within the congenic region. Genetic and phenotypic analysis of the subcongenic strains has defined a critical region of 1.8 map units for Ihtw1. This region of the genetic map is orthologous to the region on human Chr X containing the gene for the Borjeson-Forssman-Lehman syndrome, an inherited disease in which males show microorchidism.