reproductive system
• male homozygotes show a significantly increased proportion of morphologically abnormal spermatozoa
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• in the midpiece, the number of outer dense fibers (ODFs) is significantly increased and their localization and orientation is defective, leading to an increased midpiece diameter
• in the principal piece, ODFs 3 and 8 are abnormally retained, preventing normal anchoring of the fibrous sheath stalks of on microtubule doublets 3 and 8
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• sperm show multiple structural axonemal defects; the 9+2 organization is preserved in 70% of cases
• defects include loss of peripheral doublets, external shift or mislocalization of the central pair, and distorted circular distribution of the doublets of microtubules (DMTs) with central pair complex (CPC) misorientation
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• although sperm flagellum length is normal, most sperm show abnormal forms and irregular caliber of the midpiece
• number of ODFs is significantly increased and their localization and orientation is defective, leading to an increased midpiece diameter
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• staining of Mpc1l (a sperm mitochondrial protein) appears discontinuous or punctiform, suggesting that the mitochondria sheath is fragmented
• TEM revealed that mitochondria are fragmented and irregularly layered
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• a high % of sperm exhibit abnormal principal piece morphology, including severe defects in the fibrous sheath (FS)
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• ODFs 3 and 8 are abnormally retained, preventing normal anchoring of the FS stalks on DMTs 3 and 8
• longitudinal columns are misaligned and not facing the 3-central-8 complex, leading to structural asymmetry; a third longitudinal column is present in numerous sperm, further increasing asymmetry
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• sperm show complete loss of total and progressive motility
• occasionally, sperm exhibit small vibrations with defective flagellum beat
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• although epididymal sperm concentrations are within normal range, male homozygotes show complete sterility when mated with wild-type females
• in contrast, female homozygotes are fully fertile and produce litters of normal size
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cellular
• male homozygotes show a significantly increased proportion of morphologically abnormal spermatozoa
|
• in the midpiece, the number of outer dense fibers (ODFs) is significantly increased and their localization and orientation is defective, leading to an increased midpiece diameter
• in the principal piece, ODFs 3 and 8 are abnormally retained, preventing normal anchoring of the fibrous sheath stalks of on microtubule doublets 3 and 8
|
• sperm show multiple structural axonemal defects; the 9+2 organization is preserved in 70% of cases
• defects include loss of peripheral doublets, external shift or mislocalization of the central pair, and distorted circular distribution of the doublets of microtubules (DMTs) with central pair complex (CPC) misorientation
|
• although sperm flagellum length is normal, most sperm show abnormal forms and irregular caliber of the midpiece
• number of ODFs is significantly increased and their localization and orientation is defective, leading to an increased midpiece diameter
|
• staining of Mpc1l (a sperm mitochondrial protein) appears discontinuous or punctiform, suggesting that the mitochondria sheath is fragmented
• TEM revealed that mitochondria are fragmented and irregularly layered
|
• a high % of sperm exhibit abnormal principal piece morphology, including severe defects in the fibrous sheath (FS)
|
• ODFs 3 and 8 are abnormally retained, preventing normal anchoring of the FS stalks on DMTs 3 and 8
• longitudinal columns are misaligned and not facing the 3-central-8 complex, leading to structural asymmetry; a third longitudinal column is present in numerous sperm, further increasing asymmetry
|
• sperm show complete loss of total and progressive motility
• occasionally, sperm exhibit small vibrations with defective flagellum beat
|