reproductive system
N |
• female mice are fertile
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• MitoRed staining showed that some sperm mitochondria do not move to the axoneme and remain near the nucleus, whereas wild-type mitochondria are aligned along the axoneme
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• acrosome does not form the typical crescent but is irregular in shape and often remains separated into discrete foci
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• localization of ZP3R (zona pellucida 3 receptor, a marker for acrosome formation also known as SP56) is highly aberrant or absent
• in the Golgi phase, the diameter of proacrosomal vesicles budding from the trans-Golgi network (TGN) is significantly increased while the TGN lamellar structure is distorted forming loose whorls
• in the cap phase, acrosomes of intermediate size are formed but never fuse to form a single large acrosome and remain as multiple pseudoacrosomes that are attached to multiple sites on the nuclear envelope
• in the acrosome phase, ectoplasmic specializations are interrupted and the acrosome appears swollen near the marginal ring; in some cells, a space between the acrosome and nucleus appears to be filled with a Sertoli cell protrusion
• in the maturation phase, the nucleus appears fragmented and the acrosome is dispersed
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• in the cap phase, acrosomes of intermediate size are formed but never fuse to form a single large acrosome and remain as multiple pseudoacrosomes that are attached to multiple sites on the nuclear envelope
• in some cells, one acrosome appears to be formed but is significantly enlarged in size while the TGN is disorganized and partly distended
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• 79% of epididymal sperm exhibit a cylindrical or round head
• most spermatids in the seminiferous tubules possess round heads
• spermatogonial stem cell transplantation experiments show that globozoospermia is intrinsic to germ cells and not to supporting cells
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• in some cases, anchoring of the acrosome to the nucleus appears weak, resulting in invagination of Sertoli cells into the spermatid
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• in the maturation phase of acrosome formation, the manchette is sometimes located ectopically
• in some cells, an invagination of the manchette into the nucleus is observed
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• % of moving sperm is 17 +/- 2% versus 49 +/- 14% in heterozygous control males
• % of moving forward sperm is 9.0 +/- 1.2% versus 31 +/- 8.1% in heterozygous control males
• average path velocity (VAP), straight-line velocity (VSL), curvilinear velocity (VCL), amplitude of lateral head displacement (ALH), and beat cross frequency (BCF) are significantly reduced
• however, % of linearity (LIN), straightness (STR), and elongation are normal
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• in the acrosome phase, ectoplasmic specializations derived from Sertoli cells are interrupted
|
• during spermiogenesis, formation of proacrosomal vesicles from the trans-Golgi network (TGN) is disrupted, resulting in severely impaired acrosome formation
• reorganization of the nucleus does not proceed properly
• epididymal sperm show incomplete shedding of cytoplasmic content with many mitochondria detected near the nucleus
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• adult male mice are infertile
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• in an in vitro fertilization assay using wild-type oocytes, the % of 2-cell embryos derived from homozygous mutant sperm is only 3.9% versus 38% from heterozygous control sperm
• however, after intracytoplasmic sperm injection (ICSI) the % of pup production is relatively normal
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cellular
• MitoRed staining showed that some sperm mitochondria do not move to the axoneme and remain near the nucleus, whereas wild-type mitochondria are aligned along the axoneme
|
• acrosome does not form the typical crescent but is irregular in shape and often remains separated into discrete foci
|
• localization of ZP3R (zona pellucida 3 receptor, a marker for acrosome formation also known as SP56) is highly aberrant or absent
• in the Golgi phase, the diameter of proacrosomal vesicles budding from the trans-Golgi network (TGN) is significantly increased while the TGN lamellar structure is distorted forming loose whorls
• in the cap phase, acrosomes of intermediate size are formed but never fuse to form a single large acrosome and remain as multiple pseudoacrosomes that are attached to multiple sites on the nuclear envelope
• in the acrosome phase, ectoplasmic specializations are interrupted and the acrosome appears swollen near the marginal ring; in some cells, a space between the acrosome and nucleus appears to be filled with a Sertoli cell protrusion
• in the maturation phase, the nucleus appears fragmented and the acrosome is dispersed
|
• in the cap phase, acrosomes of intermediate size are formed but never fuse to form a single large acrosome and remain as multiple pseudoacrosomes that are attached to multiple sites on the nuclear envelope
• in some cells, one acrosome appears to be formed but is significantly enlarged in size while the TGN is disorganized and partly distended
|
• 79% of epididymal sperm exhibit a cylindrical or round head
• most spermatids in the seminiferous tubules possess round heads
• spermatogonial stem cell transplantation experiments show that globozoospermia is intrinsic to germ cells and not to supporting cells
|
• in some cases, anchoring of the acrosome to the nucleus appears weak, resulting in invagination of Sertoli cells into the spermatid
|
• in the maturation phase of acrosome formation, the manchette is sometimes located ectopically
• in some cells, an invagination of the manchette into the nucleus is observed
|
• % of moving sperm is 17 +/- 2% versus 49 +/- 14% in heterozygous control males
• % of moving forward sperm is 9.0 +/- 1.2% versus 31 +/- 8.1% in heterozygous control males
• average path velocity (VAP), straight-line velocity (VSL), curvilinear velocity (VCL), amplitude of lateral head displacement (ALH), and beat cross frequency (BCF) are significantly reduced
• however, % of linearity (LIN), straightness (STR), and elongation are normal
|
endocrine/exocrine glands
• in the acrosome phase, ectoplasmic specializations derived from Sertoli cells are interrupted
|