Analysis Tools
reproductive system
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• mature spermatozoa are rarely present in the epididymides
• round and elongated spermatids are significantly reduced in number and only occasional spermatozoa are found in testis tubules
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• at 20 weeks of age, TUNEL staining revealed apoptotic clusters near the basal lamina and apoptotic material in the lumen of seminiferous tubules
• quantification of TUNEL+ cells per tubule showed a 1.9-fold increase in the rate of apoptosis relative to that in wild-type tubules
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• males exhibit disruption of the blood testis barrier; expression of junctional proteins is elevated indicating an impaired Sertoli cell/germ cell interaction
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• large vacuoles are frequently found in seminiferous tubules of different stages
• accumulation of apoptotic material is often noted in the lumen of tubules
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• multi-spectral optoacoustic tomography (MSOT) imaging of indocyanine green (ICG) distribution revealed higher peak ICG levels within testicular tissue, indicating increased permeability (leakiness) of the blood-testis barrier
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• immature spermatogenic cell types ranging from pachytene to late spermatid stages are sloughed from the seminiferous epithelium and accumulate in the epididymal lumen
• a supplementary PUFA diet (38% DHA and 46% EPA) reduces germ cell sloughing and restores spermatogenesis and fertility in 50% of previously infertile mutants
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• round spermatids lack tails
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• round spermatids lack acrosome structures
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• round spermatids, lacking acrosome structures and tails, accumulate in the epididymal lumen
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• at 20 weeks of age, males produce 5.50 pups/litter whereas heterozygous and wild-type males produce 8.50 and 7.50 pups/litter, respectively
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• by 20 weeks of age, 4 out of 6 males (66%) fail to produce any offspring
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• males show an early age-related decrease in total fertility, starting at 8 weeks of age
• by 20 weeks of age, 2 out of 6 (33%) males are considered subfertile
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homeostasis/metabolism
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• lipid profiling of testis tissue revealed a reduction in lysophosphatidylcholine (lysoPCs) and unsaturated diacylphosphadidylcholines relative to wild-type controls
• total lysoPCs levels are reduced to ~73.4% of wild-type levels; this reduction is present in all major lysoPC species
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• total testicular diacylphosphatidylcholine (PCaa) levels are reduced to ~91.9% of wild-type levels due to low levels of unsaturated PCaa, with no significant changes in saturated PCaa
• whereas total, saturated and unsaturated phosphatidylcholine-plasmalogen (PCae) species remain unaffected, PCae C38:6 is strongly reduced in testicular tissue
• analysis of the most abundant PCaa and PCae species in testis tissue revealed a significant reduction in mono- (MUFA) and polyunsaturated fatty acid (PUFA) containing species
• testes show a striking reduction of the PCaa species C38:5 and C38:6, indicative of a loss of arachidonic acid (AA; C20:4), eicosapentaenic acid (EPA; C20:5), docosapentaenoic acid (DPA; C22:5) and docosahexaenoic acid DHA; C22:6)
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• whereas total, saturated and unsaturated phosphatidylcholine-plasmalogen (PCae) species remain unaffected, PCae C38:6 is strongly reduced in testicular tissue
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• lipid profiling revealed a reduction of sphingolipids in the testes
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• total sphingomyelin (SM) levels are reduced to ~78.9% of wild-type controls in testis samples
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• whereas total ceramide levels appear almost unaffected in testis samples, a significant increase is observed in the C18:1/18:1 species relative to most other ceramide species, with the exception of C18:1/26:1
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cellular
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• round spermatids lack tails
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• round spermatids lack acrosome structures
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• round spermatids, lacking acrosome structures and tails, accumulate in the epididymal lumen
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• mature spermatozoa are rarely present in the epididymides
• round and elongated spermatids are significantly reduced in number and only occasional spermatozoa are found in testis tubules
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• at 20 weeks of age, TUNEL staining revealed apoptotic clusters near the basal lamina and apoptotic material in the lumen of seminiferous tubules
• quantification of TUNEL+ cells per tubule showed a 1.9-fold increase in the rate of apoptosis relative to that in wild-type tubules
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endocrine/exocrine glands
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• at 20 weeks of age, TUNEL staining revealed apoptotic clusters near the basal lamina and apoptotic material in the lumen of seminiferous tubules
• quantification of TUNEL+ cells per tubule showed a 1.9-fold increase in the rate of apoptosis relative to that in wild-type tubules
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• males exhibit disruption of the blood testis barrier; expression of junctional proteins is elevated indicating an impaired Sertoli cell/germ cell interaction
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• large vacuoles are frequently found in seminiferous tubules of different stages
• accumulation of apoptotic material is often noted in the lumen of tubules
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• multi-spectral optoacoustic tomography (MSOT) imaging of indocyanine green (ICG) distribution revealed higher peak ICG levels within testicular tissue, indicating increased permeability (leakiness) of the blood-testis barrier
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growth/size/body
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• males show a slight reduction in body weight relative to wild-type controls
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liver/biliary system
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• males show a slight reduction in liver weight relative to wild-type controls
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