Analysis Tools
reproductive system
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• adult seminiferous tubules lack haploid cells (round spermatids and spermatozoa); some tubules are also depleted of spermatocytes
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• meiotic double-strand breaks (DSBs) are absent or severely reduced in both spermatocytes and oocytes, as shown by detection of gammaH2AX
• however, formation of chromosome axes is normal based on SYCP3 detection
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• both male and female meiocytes show defective assembly of SYCP1, a component of the synaptonemal complex
• although short SYCP1 stretches are observed suggesting progression into zygonema, these stretches fail to elongate and form a full-length synaptonemal complex, indicating failure of homologous synapsis
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• short SYCP1 stretches are observed but fail to elongate and form a full-length synaptonemal complex
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• at 2 weeks of age, females show severe defects in oogenesis
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• leptotene oocytes (E15) show a 11-fold decrease in gammaH2AX signal relative to wild-type cells, indicating a severe reduction in meiotic DSBs
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• primary follicles are severely reduced in number at 2 weeks of age and nearly absent at 8 weeks of age
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• primordial follicles are severely reduced in number at 2 weeks of age and nearly absent at 8 weeks of age
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• secondary follicles are severely reduced in number at 2 weeks of age and nearly absent at 8 weeks of age
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• adult seminiferous tubules lack haploid cells (round spermatids and spermatozoa); some tubules are also depleted of spermatocytes
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• seminiferous tubule diameter is smaller than that in wild-type controls
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• at 8-10 weeks of age, testis weight is significantly lower than that in wild-type controls
• however, body weight is normal
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• at 9 weeks of age, males show severe defects in testis tubule development
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• both focus and aggregate formation of ANKRD31, REC114, and MEI4 are disrupted in spermatocytes
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• leptotene spermatocytes (13 dpp) show a 16-fold decrease in gammaH2AX signal relative to wild-type cells, indicating a severe reduction in meiotic DSBs
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• matings of female homozygotes with wild-type males failed to yield any progeny over a 4-month period
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• matings of male homozygotes with wild-type females failed to yield any progeny over a 4-month period
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endocrine/exocrine glands
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• primary follicles are severely reduced in number at 2 weeks of age and nearly absent at 8 weeks of age
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• primordial follicles are severely reduced in number at 2 weeks of age and nearly absent at 8 weeks of age
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• secondary follicles are severely reduced in number at 2 weeks of age and nearly absent at 8 weeks of age
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• adult seminiferous tubules lack haploid cells (round spermatids and spermatozoa); some tubules are also depleted of spermatocytes
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• seminiferous tubule diameter is smaller than that in wild-type controls
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• at 8-10 weeks of age, testis weight is significantly lower than that in wild-type controls
• however, body weight is normal
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cellular
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• both focus and aggregate formation of ANKRD31, REC114, and MEI4 are disrupted in spermatocytes
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• adult seminiferous tubules lack haploid cells (round spermatids and spermatozoa); some tubules are also depleted of spermatocytes
|
|
• meiotic double-strand breaks (DSBs) are absent or severely reduced in both spermatocytes and oocytes, as shown by detection of gammaH2AX
• however, formation of chromosome axes is normal based on SYCP3 detection
|
|
• both male and female meiocytes show defective assembly of SYCP1, a component of the synaptonemal complex
• although short SYCP1 stretches are observed suggesting progression into zygonema, these stretches fail to elongate and form a full-length synaptonemal complex, indicating failure of homologous synapsis
|
|
|
• leptotene spermatocytes (13 dpp) show a 16-fold decrease in gammaH2AX signal relative to wild-type cells, indicating a severe reduction in meiotic DSBs
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• short SYCP1 stretches are observed but fail to elongate and form a full-length synaptonemal complex
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• at 2 weeks of age, females show severe defects in oogenesis
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• leptotene oocytes (E15) show a 11-fold decrease in gammaH2AX signal relative to wild-type cells, indicating a severe reduction in meiotic DSBs
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• DSB repair foci of DMC1 are significantly reduced in spermatocytes and oocytes relative to those in wild-type cells; RPA2 and RAD51 foci are also severely reduced or undetectable
• however, reduction of DSB repair foci is not due to absence of SPO11 in mutant spermatocytes
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homeostasis/metabolism
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• DSB repair foci of DMC1 are significantly reduced in spermatocytes and oocytes relative to those in wild-type cells; RPA2 and RAD51 foci are also severely reduced or undetectable
• however, reduction of DSB repair foci is not due to absence of SPO11 in mutant spermatocytes
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