reproductive system
azoospermia
(
J:324057
)
• at 10 weeks of age, no sperm are detected in the cauda epididymis, as observed in homozygous Tesminem1Qsh males
|
• immunostaining for SYCP3 and SYCP1 (synapsis makers between homologous chromosomes) on spermatocyte spreads showed complete absence of diplotene spermatocytes among meiotic prophase I cells
• ratios of leptotene and zygotene spermatocytes are significantly increased (due to lack of diplotene cells)
• however, ratio of pachytene spermatocytes is not significantly altered, indicating loss of pachytene spermatocytes
|
• TUNEL staining showed that the % of seminiferous tubules with TUNEL+ cells and number of TUNEL+ cells (spermatocytes) per tubule is significantly higher than that in wild-type testes but comparable to that in homozygous Tesminem1Qsh testes
|
small testis
(
J:324057
)
• at 10 weeks of age, testis size is significantly smaller than in wild-type controls but comparable to that in homozygous Tesminem1Qsh males
|
• at 10 weeks of age, testis/body weight ratio is reduced to only 2.16 versus ~8 in wild-type controls but is comparable to that observed in homozygous Tesminem1Qsh males
|
• spermatogenesis is arrested at the primary spermatocyte stage, as observed in homozygous Tesminem1Qsh males
• at 10 weeks of age, all germ cells are SYCP3+ with no detectable PNA+ cells observed in the seminiferous tubules, indicating failure to generate spermatids or sperm
|
• meiosis is arrested between 12 to 15 dpp, before the late pachytene stage, as observed in homozygous Tesminem1Qsh males
• however, homologous recombination is not affected, as determined by the number of foci of meiotic DSB markers RPA2 and DMC1 in zygotene and early-pachytene spermatocytes
• although mild synapsis defects are detected in pachytene spermatocytes, the % of cells with defective autosomal synapsed bivalents is not significantly increased, suggesting that mild asynapsis of autosomal pairs is unlikely to cause pachytene arrest
|
cellular
azoospermia
(
J:324057
)
• at 10 weeks of age, no sperm are detected in the cauda epididymis, as observed in homozygous Tesminem1Qsh males
|
• immunostaining for SYCP3 and SYCP1 (synapsis makers between homologous chromosomes) on spermatocyte spreads showed complete absence of diplotene spermatocytes among meiotic prophase I cells
• ratios of leptotene and zygotene spermatocytes are significantly increased (due to lack of diplotene cells)
• however, ratio of pachytene spermatocytes is not significantly altered, indicating loss of pachytene spermatocytes
|
• meiosis is arrested between 12 to 15 dpp, before the late pachytene stage, as observed in homozygous Tesminem1Qsh males
• however, homologous recombination is not affected, as determined by the number of foci of meiotic DSB markers RPA2 and DMC1 in zygotene and early-pachytene spermatocytes
• although mild synapsis defects are detected in pachytene spermatocytes, the % of cells with defective autosomal synapsed bivalents is not significantly increased, suggesting that mild asynapsis of autosomal pairs is unlikely to cause pachytene arrest
|
• TUNEL staining showed that the % of seminiferous tubules with TUNEL+ cells and number of TUNEL+ cells (spermatocytes) per tubule is significantly higher than that in wild-type testes but comparable to that in homozygous Tesminem1Qsh testes
|
endocrine/exocrine glands
small testis
(
J:324057
)
• at 10 weeks of age, testis size is significantly smaller than in wild-type controls but comparable to that in homozygous Tesminem1Qsh males
|
• at 10 weeks of age, testis/body weight ratio is reduced to only 2.16 versus ~8 in wild-type controls but is comparable to that observed in homozygous Tesminem1Qsh males
|