reproductive system
azoospermia
(
J:69502
)
• no mature spermatozoa are detected in semen samples from the vas deferens and epididymis at 8 weeks of age
|
• spermatids from both adult and juvenile (22-26 days of age) male homozygotes display aberrant acrosome structures
|
• testes from both adult and juvenile (22-26 days of age) male homozygotes show complete absence of elongated spermatids
• round spermatids are arrested at different stages during spermiogenesis, as evidenced by aberrant acrosome structures, and undergo apoptosis
|
• mutant round spermatids undergo apoptosis, as revealed by TUNEL staining
• in juvernile homozygotes, the number of apoptotic cells increases significantly at day 28 after birth and beyond
|
• at stage 6, seminiferous tubules from both adult and juvenile homozygotes display total absence of elongated spermatids or spermatozoa and large vacuolar structures
|
• adult male homozygotes show a 20%-30% reduction in the diameter of seminiferous tubules relative to wild-type males
|
• at stage 9, some mutant tubules exhibit degenerating cells with abnormal nuclear structures as well as typical multinucleated giant apoptotic cells
|
small testis
(
J:69502
)
• at 8 weeks of age, male homozygotes show a 50% reduction in testicular size relative to control males
• however, serum testosterone levels remain unaffected at this age
|
• at 7-9 weeks of age, male homozygotes show a 50% reduction in testicular weight relative to control males
|
• postmeiotic round spermatids advance at most to stage 7 but fail to undergo morphological differentiation and development into elongated spermatids
• arrest of spermiogenesis is associated with reduced expression of several postmeiotically transcribed testis-specific genes in both adult and juvenile testis
|
• male homozygotes copulate normally but fail to sire offspring
• in contrast, female homozygotes are fertile and produce normal average litter sizes
|
endocrine/exocrine glands
• at stage 6, seminiferous tubules from both adult and juvenile homozygotes display total absence of elongated spermatids or spermatozoa and large vacuolar structures
|
• adult male homozygotes show a 20%-30% reduction in the diameter of seminiferous tubules relative to wild-type males
|
• at stage 9, some mutant tubules exhibit degenerating cells with abnormal nuclear structures as well as typical multinucleated giant apoptotic cells
|
small testis
(
J:69502
)
• at 8 weeks of age, male homozygotes show a 50% reduction in testicular size relative to control males
• however, serum testosterone levels remain unaffected at this age
|
• at 7-9 weeks of age, male homozygotes show a 50% reduction in testicular weight relative to control males
|
cellular
azoospermia
(
J:69502
)
• no mature spermatozoa are detected in semen samples from the vas deferens and epididymis at 8 weeks of age
|
• spermatids from both adult and juvenile (22-26 days of age) male homozygotes display aberrant acrosome structures
|
• testes from both adult and juvenile (22-26 days of age) male homozygotes show complete absence of elongated spermatids
• round spermatids are arrested at different stages during spermiogenesis, as evidenced by aberrant acrosome structures, and undergo apoptosis
|
• mutant round spermatids undergo apoptosis, as revealed by TUNEL staining
• in juvernile homozygotes, the number of apoptotic cells increases significantly at day 28 after birth and beyond
|