Analysis Tools
reproductive system
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• reduction of oocyte number at P1, leading to complete depletion of oocytes by P5
• however, oocyte number is normal at E17.5
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• lack of round and elongated spermatids at P75
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• loss of differentiated spermatocytes at P18
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• however, the number of spermatogonia is normal at P7
• males show loss of differentiated spermatocytes at P18 and lack round and elongated spermatids at P75
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• atrophic ovaries at P35
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• atrophic testes at P35
• however, testes are histologically normal at P7
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• in zygotene-like spermatocytes, the chiasmata marker MLH1 is absent from chromosomes, indicating failure of homologous recombination
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• in zygotene-like spermatocytes, SYCP1 (synaptonemal complex protein 1) is partially formed along the synaptonemal axes, indicating impaired homologous synapsis
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• female germ cells fail to progress beyond the zygotene stage
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• homologous synapsis, double-strand repair, and homologous recombination are largely abolished in spermatocytes
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• telomere attachment to the nuclear envelope (NE) is impaired in spermatocytes leading to meiotic prophase I arrest, before telomere cap exchange, homologous synapsis, and recombination; spermatocytes do not progress beyond the pachytene stage
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• in zygotene-like spermatocytes, SYCP1 (synaptonemal complex protein 1) is partially formed along the synaptonemal axes, indicating impaired homologous synapsis
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infertility
(
J:239544
)
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• both males and females are infertile
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cellular
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• reduction of oocyte number at P1, leading to complete depletion of oocytes by P5
• however, oocyte number is normal at E17.5
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• lack of round and elongated spermatids at P75
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• loss of differentiated spermatocytes at P18
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• males show loss of differentiated spermatocytes at P18 and lack round and elongated spermatids at P75
• however, the number of spermatogonia is normal at P7
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• in P18 spermatocytes (leptotene and zygotene-like cells), most telomeres are abnormally observed inside the nucleus, unlike in wild-type spermatocytes where all telomeres are attached to the nuclear envelope (NE)
• in E17.5 zygotene-like oocytes, several telomeres are found inside the nucleus, unlike in wild-type oocytes, indicating that telomere attachment to the NE is impaired
• P18 zygotene-like spermatocytes lack the shelterin ring structure observed in wild-type spermatocytes, indicating failure of the telomere cap-exchange process
• in zygotene-like spermatocytes, TERB1 and MAJIN are localized to telomeres on the NE, but SUN1 is observed along the NE as a polarized cap, indicating that telomere tethering to the LINC complex is impaired during prophase
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• in zygotene-like spermatocytes, gammaH2AX is observed along all chromosome axes rather than being restricted to the unsynapsed regions of the XY body, indicating that DNA double-strand repair is impaired
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endocrine/exocrine glands
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• atrophic ovaries at P35
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• atrophic testes at P35
• however, testes are histologically normal at P7
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homeostasis/metabolism
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• in zygotene-like spermatocytes, gammaH2AX is observed along all chromosome axes rather than being restricted to the unsynapsed regions of the XY body, indicating that DNA double-strand repair is impaired
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