Male hybrid sterility of mice with the genomic region of the KitW mutation and the KitS allele from Mus spretus

Two congenic strains, C57BL-KitW and C57BL-KitS, were generated. The KitW allele originated from strain WB-KitW and the KitS allele from Mus spretus. The KitW/KitS males showed hybrid sterility with small testes, but the females were fertile. The development of the seminiferous tubules of KitW/KitS males stopped before the spermatocyte stage and they were almost free of sperm. The Kit gene is located at position 42 on chromosome 5. We investigated in the C57BL-KitS congenic strain which part of the chromosomal region adjacent to the KitS allele is introduced from SPR into a C57BL background. The region between positions 42 and 44 was derived from SPR. Eleven amino acid substitutions of the KitS cDNA were detected by comparison with the sequence data of the +Kit cDNA from C57BL; seven were in the extracellular domain, one in the transmembrane domain, two in the kinase I domain, and one in the carboxy-terminal tail. The Kit mRNA derived from both KitW and KitS alleles was expressed in the sterile testes of KitW/KitS males.