reproductive system
N |
• females are fertile
• males show normal testis size and weight; spermatogonia and spermatocytes develop normally
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• mature sperm are reduced in number by 99%
|
• the few surviving spermatozoa are malformed
• all sperm present in spermatic duct are malformed in one or more ways, affecting sperm tail shape, sperm tail length, head shape and midpiece morphology
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• flagella are severely deformed or absent
• bifurcated tail-like structures are sometimes observed
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• only one sperm flagellum was found, showing severe disorganization of axonemal microtubules
|
• sperm midpieces are shortened
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• most spermatids lack tails
|
• sperm tails are shortened
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• sperm heads are incorrectly formed
• spermatid heads are bent over during the late maturation phase
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• in steps 13-14 of spermiogenesis, the caudal movement of the acrosome forming the acrosomic clefts is uneven and a general bulky appearance is observed in spermatids; spermatid acrosomes appear malformed
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• in steps 15-16 of spermiogenesis, nuclei are split, bifurcated and chromatin appears perforated
• during late spermiogenesis, centrioles of the differentiating basal body apparatus fail to contact the nuclear membrane/envelope and a gap between the nucleus and basal body apparatus persists during further maturation
• the nuclear fossa is deformed in most spermatids
|
• in stage VIII and IX seminiferous tubules, electron-dense material of degraded spermatids is present instead of mature tailed spermatids
• in steps 13-14 of spermiogenesis, interspaces between the Sertoli cell ectoplasmic specialization and plasma membranes are frequent and spermatid acrosomes are malformed
• in steps 15-16 of spermiogenesis, no midpiece or tail formation is seen; nuclei are split, bifurcated and chromatin appears perforated; spermatid heads are bent over and the shape of centrosomal region is abnormal; cell debris of spermatids in granules indicates cell degeneration
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• all of the few sperm found in semen are immotile
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• in steps 13-14 of spermiogenesis, Sertoli cell membranes appear deformed relative to the straight, parallel membranes in wild-type spermatids; a wider distention between the Sertoli cell membranes is seen
|
• spermiogenesis is impaired during late steps of elongated spermatid maturation
• in stage VIII and IX seminiferous tubules, electron-dense material of degraded spermatids is present instead of mature tailed spermatids
• in steps 8-12 of spermiogenesis, centriole arrangement of the sperm flagellar basal apparatus is disorganized
• during acrosome progression and spermatid elongation, CETN3 (centriole marker) labeling decays not only in the two centrioles but also in the centriole adjunct
• striated and basal bodies are not formed, the entire basal body complex is reduced and degrades prior to flagellar outgrowth
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• spermiated sperm are absent
|
• males fail to produce offspring
|
cellular
• mature sperm are reduced in number by 99%
|
• the few surviving spermatozoa are malformed
• all sperm present in spermatic duct are malformed in one or more ways, affecting sperm tail shape, sperm tail length, head shape and midpiece morphology
|
• flagella are severely deformed or absent
• bifurcated tail-like structures are sometimes observed
|
• only one sperm flagellum was found, showing severe disorganization of axonemal microtubules
|
• sperm midpieces are shortened
|
• most spermatids lack tails
|
• sperm tails are shortened
|
• sperm heads are incorrectly formed
• spermatid heads are bent over during the late maturation phase
|
• in steps 13-14 of spermiogenesis, the caudal movement of the acrosome forming the acrosomic clefts is uneven and a general bulky appearance is observed in spermatids; spermatid acrosomes appear malformed
|
• in steps 15-16 of spermiogenesis, nuclei are split, bifurcated and chromatin appears perforated
• during late spermiogenesis, centrioles of the differentiating basal body apparatus fail to contact the nuclear membrane/envelope and a gap between the nucleus and basal body apparatus persists during further maturation
• the nuclear fossa is deformed in most spermatids
|
• in stage VIII and IX seminiferous tubules, electron-dense material of degraded spermatids is present instead of mature tailed spermatids
• in steps 13-14 of spermiogenesis, interspaces between the Sertoli cell ectoplasmic specialization and plasma membranes are frequent and spermatid acrosomes are malformed
• in steps 15-16 of spermiogenesis, no midpiece or tail formation is seen; nuclei are split, bifurcated and chromatin appears perforated; spermatid heads are bent over and the shape of centrosomal region is abnormal; cell debris of spermatids in granules indicates cell degeneration
|
• spermatids show defects in centriole rearrangement during basal body maturation and in basal body-nucleus connection
• altered rearrangement of the two centrioles and the centriolar adjunct result in dysmorphic spermatid heads and tails
|
• all of the few sperm found in semen are immotile
|
endocrine/exocrine glands
• in steps 13-14 of spermiogenesis, Sertoli cell membranes appear deformed relative to the straight, parallel membranes in wild-type spermatids; a wider distention between the Sertoli cell membranes is seen
|
vision/eye
N |
• mice exhibit normal phototransduction and light-dependent translocation of transducin to the rod inner segment
• no retinal degeneration or differences in scotopic ERG a-wave amplitudes are observed
|