reproductive system
|
• cytoplasmic remnants are attached to the midpiece
• however, mitochondrial sheath assembly is normal
• tail bending (head-bent-back) is consistently observed in the midpiece of the sperm tail
|
|
• ~91% of spermatozoa in the testes and cauda epididymis exhibit abnormal tail bending (head-bent-back)
• bending sites are always observed in the midpiece of the tail, not in the head or principal piece
• TEM analysis showed that the tail bent at the midpiece is held together by tissues resembling remnants of cytoplasm
|
|
• at 2 months of age, the total number of sperm in the cauda epididymes is decreased by ~50% relative to that in controls males
|
|
• TUNEL staining showed significant spermatocyte cell loss in the seminiferous epithelium
• however, spermatogonia cell survival is normal
|
|
• TUNEL staining showed a significant increase in the number of apoptotic cells in the testes relative to control males
• TUNEL+ signals are colocalized with the spermatocyte cell marker synaptonemal complex protein-3 (SYCP3), but not with the spermatogonia cell marker ZBTB16 (aka PLZF), indicating spermatocyte cell loss in the seminiferous epithelium
|
|
• at 2 months of age, the percentage of progressive sperm is markedly reduced
|
|
• at 2 months of age, the percentage of motile sperm is markedly reduced
|
|
• some seminiferous tubules appear disorganized with large vacuoles while others show normal tubule structure in histology
|
small testis
(
J:309155
)
|
• at 2 months of age, testes size is significantly smaller than in control males
|
|
• weight of adult testes is significantly lower than in control males
• however, adult body weight is normal
|
|
• cytoplasmic remnants are abnormally retained on the bent midpiece, indicating a defect in cytoplasm removal from elongated spermatids which in turn leads to the failure of spermiogenesis
• however, many aspects of spermatogenesis, including acrosome formation, nuclear condensation and elongation, mitochondrial sheath arrangement and 9 + 2 flagellar structure assembly, are normal
|
|
• when mated with wild-type females, adult male mice do not produce any progeny despite normal vaginal plug formation
• male infertility can be overcome by intracytoplasmic injection-embryo transfer (ICSI-ET) but male offspring is sub-fertile
|
|
• although tail-bending spermatozoa are found in the vaginal plug after natural mating, no sperm are found in COCs of oviductal ampullae and no two pronuclei formation is observed
• in an IVF assay, the number of spermatozoa bound to the zona pellucida is significantly decreased and sperm fail to fertilize the eggs and develop to the 2-cell stage
|
|
• spermatozoa fail to fertilize eggs by natural mating or IVF
|
|
• the number of spermatozoa bound to the zona pellucida of metaphase II oocytes is significantly decreased after IVF
|
cellular
|
• tail bending (head-bent-back) is consistently observed in the midpiece of the sperm tail
• cytoplasmic remnants are attached to the midpiece
• however, mitochondrial sheath assembly is normal
|
|
• ~91% of spermatozoa in the testes and cauda epididymis exhibit abnormal tail bending (head-bent-back)
• bending sites are always observed in the midpiece of the tail, not in the head or principal piece
• TEM analysis showed that the tail bent at the midpiece is held together by tissues resembling remnants of cytoplasm
|
|
• at 2 months of age, the total number of sperm in the cauda epididymes is decreased by ~50% relative to that in controls males
|
|
• TUNEL staining showed significant spermatocyte cell loss in the seminiferous epithelium
• however, spermatogonia cell survival is normal
|
|
• TUNEL staining showed a significant increase in the number of apoptotic cells in the testes relative to control males
• TUNEL+ signals are colocalized with the spermatocyte cell marker synaptonemal complex protein-3 (SYCP3), but not with the spermatogonia cell marker ZBTB16 (aka PLZF), indicating spermatocyte cell loss in the seminiferous epithelium
|
|
• at 2 months of age, the percentage of progressive sperm is markedly reduced
|
|
• at 2 months of age, the percentage of motile sperm is markedly reduced
|
endocrine/exocrine glands
|
• some seminiferous tubules appear disorganized with large vacuoles while others show normal tubule structure in histology
|
small testis
(
J:309155
)
|
• at 2 months of age, testes size is significantly smaller than in control males
|
|
• weight of adult testes is significantly lower than in control males
• however, adult body weight is normal
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
oligoasthenoteratozoospermia | DOID:0070311 | J:309155 |