Analysis Tools
reproductive system
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• pachytene spermatocytes are largely absent
• however, numerous leptotene/zygotene spermatocytes are observed
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• no elongated spermatids or mature sperm are detected in seminiferous tubules
• pachytene spermatocytes are largely absent
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• structured illumination microscopy (SIM) of spermatocytes revealed only a few examples of apparently partially paired homologs with telomeres in precise alignment
• fully synapsed homologs are never observed; SCP3 appears mainly in single axial strands and only limited regions of paired SCP3 strands are observed that are weakly positive for SCP1, unlike in wild-type spermatocytes where sister chromosomes are paired as shown by both SCP3 and SCP1 labeling
• spermatocytes positive for both CREST and SCP3 persist in the central region of seminiferous tubules, instead of being restricted to the tubule periphery as in wild-type cells
• the number of CREST+ foci is significantly greater than that in wild-type spermatocytes, consistent with limited homologous pairing
• occasional examples of what may be nonhomologous pairing are observed, where telomeres are misaligned
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• spermatocytes arrest at the leptotene/zygotene stage of meiotic prophase 1, with most chromosomes never forming homologous pairs
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• spermatocytes fail to recruit cytoplasmic dynein to nuclear envelope (NE)-associated telomere attachment sites; a ~40% reduction in the number of NE-associated telomeres is observed
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• ~30% of seminiferous tubule cross sections show widespread TUNEL staining, unlike in wild-type tubules where only occasional TUNEL+ nuclei are detected
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• females exhibit a severe gametogenesis defect
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• no follicles are identified
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small ovary
(
J:201813
)
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• ovaries are barely visible after necropsy and contain little more than stromal tissue
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• seminiferous tubules lack both elongated spermatids and mature sperm
• ~30% of tubules exhibit only a single layer of cells, likely including Sertoli cells, at the tubule periphery
• ~30% of tubule cross sections show widespread TUNEL staining, unlike in wild-type tubules where only occasional TUNEL+ nuclei are detected
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• seminiferous tubules are narrower than normal
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small testis
(
J:201813
)
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• testes are only ~25% the size of wild-type testes
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cellular
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• pachytene spermatocytes are largely absent
• however, numerous leptotene/zygotene spermatocytes are observed
|
|
|
• no elongated spermatids or mature sperm are detected in seminiferous tubules
• pachytene spermatocytes are largely absent
|
|
|
• structured illumination microscopy (SIM) of spermatocytes revealed only a few examples of apparently partially paired homologs with telomeres in precise alignment
• fully synapsed homologs are never observed; SCP3 appears mainly in single axial strands and only limited regions of paired SCP3 strands are observed that are weakly positive for SCP1, unlike in wild-type spermatocytes where sister chromosomes are paired as shown by both SCP3 and SCP1 labeling
• spermatocytes positive for both CREST and SCP3 persist in the central region of seminiferous tubules, instead of being restricted to the tubule periphery as in wild-type cells
• the number of CREST+ foci is significantly greater than that in wild-type spermatocytes, consistent with limited homologous pairing
• occasional examples of what may be nonhomologous pairing are observed, where telomeres are misaligned
|
|
|
• spermatocytes arrest at the leptotene/zygotene stage of meiotic prophase 1, with most chromosomes never forming homologous pairs
|
|
|
• spermatocytes fail to recruit cytoplasmic dynein to nuclear envelope (NE)-associated telomere attachment sites; a ~40% reduction in the number of NE-associated telomeres is observed
|
|
|
• ~30% of seminiferous tubule cross sections show widespread TUNEL staining, unlike in wild-type tubules where only occasional TUNEL+ nuclei are detected
|
|
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• females exhibit a severe gametogenesis defect
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• spermatocytes accumulate double-strand breaks that are never resolved; virtually all SCP3+ cells contain Rad51 foci, unlike in wild-type cells where the bulk of SCP3+ cells, typically in pachytene, resolve most Rad51 foci
• seminiferous tubules accumulate persistent gamma-H2AX+ cells toward the tubule center; a significantly higher % of gamma-H2AX+ nuclei are found within the lumen relative to wild-type tubules (63.3 +/- 11.5% versus 14.5 +/- 6.1%)
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endocrine/exocrine glands
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• ~30% of seminiferous tubule cross sections show widespread TUNEL staining, unlike in wild-type tubules where only occasional TUNEL+ nuclei are detected
|
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• no follicles are identified
|
small ovary
(
J:201813
)
|
|
• ovaries are barely visible after necropsy and contain little more than stromal tissue
|
|
|
• seminiferous tubules lack both elongated spermatids and mature sperm
• ~30% of tubules exhibit only a single layer of cells, likely including Sertoli cells, at the tubule periphery
• ~30% of tubule cross sections show widespread TUNEL staining, unlike in wild-type tubules where only occasional TUNEL+ nuclei are detected
|
|
|
• seminiferous tubules are narrower than normal
|
small testis
(
J:201813
)
|
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• testes are only ~25% the size of wild-type testes
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homeostasis/metabolism
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• spermatocytes accumulate double-strand breaks that are never resolved; virtually all SCP3+ cells contain Rad51 foci, unlike in wild-type cells where the bulk of SCP3+ cells, typically in pachytene, resolve most Rad51 foci
• seminiferous tubules accumulate persistent gamma-H2AX+ cells toward the tubule center; a significantly higher % of gamma-H2AX+ nuclei are found within the lumen relative to wild-type tubules (63.3 +/- 11.5% versus 14.5 +/- 6.1%)
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