All Phenotypes Sox30<em1Laye> MGI Mouse

reproductive system phenotype ( J:263980 )

N	• adult female mice are fertile

azoospermia ( J:263980 )

• no mature spermatozoa are detected in the caudal epididymis

abnormal proacrosomal vesicle fusion ( J:263980 )

• proacrosomic vesicles fail to fuse and form a single large acrosomal organelle

• a subset of proacrosomic vesicles are not located between the Golgi apparatus and the nucleus

abnormal spermatid morphology ( J:263980 )

• round spermatids arrest during the first wave of spermatogenesis

• elongating spermatids are completely absent at P28

• however, round spermatids show intact architecture of chromatoid bodies

abnormal spermatocyte morphology ( J:263980 )

• germ cells progress through meiosis but show defects in spermatocyte development

• at 8 weeks of age, the % of diplotene spermatocytes is significantly higher than in wild-type testes (20.96% versus 8.84%)

• a small % of diplotene spermatocytes show altered gammaH2AX distribution, with gammaH2AX abnormally retained on autosomal chromatin

multinucleated giant male germ cells ( J:263980 )

• round spermatids form large multinucleated cell clusters

• giant multinucleated cell clusters are first seen at P28 and accumulate in P35 testes

increased male germ cell apoptosis ( J:263980 )

• at 8 weeks of age, the number of TUNEL+ cells per seminiferous tubule is significantly higher than in wild-type testes; ~60% of tubules contain TUNEL+ apoptotic germ cells versus only 20% in wild-type testes

• large numbers of apoptotic cells are additionally detected in the epididymal tubules

• although TUNEL signal is mostly detected in multinucleated cells, TUNEL+ cells are also found in germ cells from the basal lamina to the luminal layer of the seminiferous epithelium; such apoptotic cells likely represent meiotic cells, as indicated by DAPI staining

• however, no apparent defects are observed in Sertoli cell morphology and numbers or in undifferentiated spermatogonia numbers

small testis ( J:263980 )

• at 8 weeks of age, testis size is severely reduced

decreased testis weight ( J:263980 )

• at 8 weeks of age, testes weight is only 53.52% that of age-matched wild-type testes

• however, body weight is normal

arrest of spermiogenesis ( J:263980 )

• at 8 weeks of age, males exhibit spermiogenic arrest at the early round spermatid stage; spermatids arrest at step 2-3

• spermatids undergoing cellular elongation or nuclear condensation are not observed

• accumulation of diplotene spermatocytes indicates a delayed or impaired transition from meiotic to postmeiotic stages

• however, no significant change in the distribution of germ cell populations is seen at P21

abnormal epididymis morphology ( J:263980 )

• epididymal tubules lack mature sperm but contain large numbers of degenerating germ cells with round-shaped nuclei

male infertility ( J:263980 )

• adult males mated with wild-type fertile females fail to produce pups