Characterization and linkage mapping of an ENU-induced mutant mouse with defective spermatogenesis

摘要: repro23 is an autosomal recessive mutation of the mouse generated by N-ethyl-N-nitrosourea (ENU)-induced mutagenesis program at The Jackson Laboratory. repro23/repro23 homozygous shows male-specific infertility caused defective spermatogenesis. In present study, we investigated testicular pathology affected and performed linkage analysis to determine chromosomal localization locus. Histological examination testis showed that seminiferous epithelium mice contained spermatogonia early stage spermatocytes, but no spermatids or spermatozoa. Immunohistochemical staining for Hsc70t, a spermatid specific protein, confirmed absence elongating spermatids. These findings indicated interruption spermatogenesis during meiosis in mouse. By using 137 F2 progeny obtained from crosses between female JF1/Ms (+/+) male mice, locus was mapped 2.2-Mb region chromosome 7. Although this contains several potential candidate genes mutation, gene already identified as cause speramatogenesis region. Therefore, responsible suggested be novel which plays essential role mammalian