Analysis Tools
reproductive system
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• oocytes have significantly less MLH1 foci per cell, indicating impaired formation of class I crossovers
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azoospermia
(
J:383089
)
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• H&E staining shows no postmeiotic germ cells in the testes and no sperm in the epididymides of adult males
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• metaphase I spermatocytes from 2-month-old males show a significant reduction in the average number of bivalents per cell, with most chromosomes present as univalent
• all observed metaphase I spermatocytes show disorganized chromosomes and abnormal spindle morphology
• mid-pachytene spermatocytes have significantly less MLH1, MLH3 and non-telomeric CDK2 foci per cell while mid- and late pachytene spermatocytes form significantly fewer HEI10 foci per cell, indicating that formation of class I crossovers is severely impaired
• mid- and late pachytene spermatocytes fail to show a reduction in RNF212 foci (a SUMO ligase involved in designating crossover sites by stabilizing the ZMM proteins MSH4 and TEX11)
• surprisingly, markedly fewer MSH4 and TEX11 foci are noted in zygotene and pachytene spermatocytes, starting at early zygonema and persisting to mid- or late pachynema, indicating a reduction in recombination intermediates
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• both sexes show impaired class I crossover formation and consequent meiotic arrest
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• most pachytene spermatocytes with short and thick lateral elements exhibit discontinuous and/or weak signals of SYCP1, a transverse filament of the synaptonemal complex (SC), suggesting synaptic defects
• pachytene spermatocytes also show discontinuous signals of SIX6OS1 (a SC central element protein)
• although 12.98% of pachytene spermatocytes show fully synapsed chromosomes, the remaining 87.12% have variable synaptic defects; among these, 25.56% of cells show synapsed sex chromosomes but with at least one pair of incompletely synapsed autosomes, 12.92% of cells show fully synapsed autosomes but with asynapsed sex chromosomes, and 48.54% contain synapsis defects on both autosomal and sex chromosomes
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• 12.92% of pachytene spermatocytes show fully synapsed autosomes with asynapsed sex chromosomes and 48.54% contain synapsis defects on both autosomal and sex chromosomes
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• all observed metaphase I spermatocytes show disorganized chromosomes and abnormal spindle morphology, unlike in wild-type controls where 84.3% of metaphase I spermatocytes have homologous chromosomes aligned to the equatorial plate and form a typical bipolar spindle
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• ovaries of 2-month-old females are devoid of follicles
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• primary follicles are significantly reduced at 5 dpp
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• primary follicles are absent at 14 dpp
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• primordial follicles are rare at 5 dpp
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• primordial follicles are absent at 14 dpp
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• secondary follicles are severely reduced at 5 dpp and only rare at 14 dpp
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• antral follicles are absent at 14 dpp
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• at 5 dpp, ovarian follicle formation is severely impaired; primordial follicles are rare while the numbers of primary and secondary follicles are reduced
• at 14 dpp, further follicle development is also disrupted; only a few follicles are present in the ovaries
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• H&E staining shows no postmeiotic germ cells in the testes
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small testis
(
J:383089
)
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• 2-month-old males have smaller testes than wild-type controls
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• 2-month-old males show a significant decrease in the testis-to-body weight ratio relative to wild-type controls
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• spermatogenesis is arrested at the spermatocyte stage
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• although progression of meiotic prophase I is unaffected, spermatogenesis is arrested at meiotic metaphase I due to a severe reduction in class I crossovers
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infertility
(
J:383089
)
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• both sexes are infertile
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• female mice mated with wild-type males fail to produce pups over a 2-month breeding period
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cellular
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• oocytes have significantly less MLH1 foci per cell, indicating impaired formation of class I crossovers
|
azoospermia
(
J:383089
)
|
|
• H&E staining shows no postmeiotic germ cells in the testes and no sperm in the epididymides of adult males
|
|
|
• metaphase I spermatocytes from 2-month-old males show a significant reduction in the average number of bivalents per cell, with most chromosomes present as univalent
• all observed metaphase I spermatocytes show disorganized chromosomes and abnormal spindle morphology
• mid-pachytene spermatocytes have significantly less MLH1, MLH3 and non-telomeric CDK2 foci per cell while mid- and late pachytene spermatocytes form significantly fewer HEI10 foci per cell, indicating that formation of class I crossovers is severely impaired
• mid- and late pachytene spermatocytes fail to show a reduction in RNF212 foci (a SUMO ligase involved in designating crossover sites by stabilizing the ZMM proteins MSH4 and TEX11)
• surprisingly, markedly fewer MSH4 and TEX11 foci are noted in zygotene and pachytene spermatocytes, starting at early zygonema and persisting to mid- or late pachynema, indicating a reduction in recombination intermediates
|
|
• both sexes show impaired class I crossover formation and consequent meiotic arrest
|
|
|
• most pachytene spermatocytes with short and thick lateral elements exhibit discontinuous and/or weak signals of SYCP1, a transverse filament of the synaptonemal complex (SC), suggesting synaptic defects
• pachytene spermatocytes also show discontinuous signals of SIX6OS1 (a SC central element protein)
• although 12.98% of pachytene spermatocytes show fully synapsed chromosomes, the remaining 87.12% have variable synaptic defects; among these, 25.56% of cells show synapsed sex chromosomes but with at least one pair of incompletely synapsed autosomes, 12.92% of cells show fully synapsed autosomes but with asynapsed sex chromosomes, and 48.54% contain synapsis defects on both autosomal and sex chromosomes
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• 12.92% of pachytene spermatocytes show fully synapsed autosomes with asynapsed sex chromosomes and 48.54% contain synapsis defects on both autosomal and sex chromosomes
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• although progression of meiotic prophase I is unaffected, spermatogenesis is arrested at meiotic metaphase I due to a severe reduction in class I crossovers
|
|
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• all observed metaphase I spermatocytes show disorganized chromosomes and abnormal spindle morphology, unlike in wild-type controls where 84.3% of metaphase I spermatocytes have homologous chromosomes aligned to the equatorial plate and form a typical bipolar spindle
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• number of DMC1 foci is significantly higher in late zygotene spermatocytes and slightly higher in early and mid-pachytene spermatocytes, suggesting that meiotic DSB repair is delayed
• number of RPA2 foci is significantly lower in late zygotene and early pachytene spermatocytes but higher in mid- and late pachytene spermatocytes, indicating deficient repair of some DSBs
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endocrine/exocrine glands
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• ovaries of 2-month-old females are devoid of follicles
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• primary follicles are significantly reduced at 5 dpp
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• primary follicles are absent at 14 dpp
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• primordial follicles are rare at 5 dpp
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• primordial follicles are absent at 14 dpp
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• secondary follicles are severely reduced at 5 dpp and only rare at 14 dpp
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• antral follicles are absent at 14 dpp
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|
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• at 5 dpp, ovarian follicle formation is severely impaired; primordial follicles are rare while the numbers of primary and secondary follicles are reduced
• at 14 dpp, further follicle development is also disrupted; only a few follicles are present in the ovaries
|
|
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• H&E staining shows no postmeiotic germ cells in the testes
|
small testis
(
J:383089
)
|
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• 2-month-old males have smaller testes than wild-type controls
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• 2-month-old males show a significant decrease in the testis-to-body weight ratio relative to wild-type controls
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homeostasis/metabolism
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• number of DMC1 foci is significantly higher in late zygotene spermatocytes and slightly higher in early and mid-pachytene spermatocytes, suggesting that meiotic DSB repair is delayed
• number of RPA2 foci is significantly lower in late zygotene and early pachytene spermatocytes but higher in mid- and late pachytene spermatocytes, indicating deficient repair of some DSBs
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