vision/eye
• opacities and lens tissue destruction were apparent in the nucleus of the lens at three weeks of age by both slit-lamp and histological analyses
• increasing incidence and severity with age noted at 8 weeks of age compared to 3 weeks of age; as cataract formation progressed, both the opacities and the region of tissue destruction were observed to spread towards the cortex of the lens
• histological analysis showed no gross morphological alterations in any other areas of the eye
• retinal structure and function are unimpaired
• Background Sensitivity: variable penetrance; more severe on this inbred genetic background than on a mixed genetic background
• more severe than heterozygote
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reproductive system
• the number of sertoli cells per seminiferous tubule was decreased
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• heterozygous mice show decreased tubule diameter; more severe than heterozygote
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• apoptotic cells within the seminiferous tubules were observed
• 25-fold increase in apoptotic cell death was observed when compared with the controls
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• progressive; nodular hyperplasia is seen at 3 months
• by 6 months of age, 75% of the inter-tubular spaces are filled with Leydig cells
• serum testosterone levels are not significantly different
• mean intra-testicular testosterone levels are significantly elevated in the mutant mice when compared to control animals
• no significant changes in inhibin and inhibin B protein levels in the mutant mice when compared with the controls
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small testis
(
J:91207
)
• size of the homozygous testis is normal at birth but by 12 weeks of age the average size is 30% of controls
• gonadal development at E11 (formation of the indifferent gonad) and E14.5 when testicular cords are first visible, appears normal in the male homozygous mice
• no significant difference in testis size, number of seminiferous tubules or sertoli cell/spermatogonia ratios in the newborn mutant mice
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• viable sertoli cells and some spermatogonia were present in the seminiferous tubules, but most cells of the spermatogenic series are either lost or disarrayed when compared with the controls
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azoospermia
(
J:91207
)
• terminally differentiated spermatozoa are never observed in the mutant testis at 6 weeks of age
|
• haploid spermatids do not develop into mature spermatozoa
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• meiosis is completed but the haploid spermatids do not develop into mature spermatozoa
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• litters are not obtained when homozygous males/wild-type females were mated at either 3 or 6 months of age
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homeostasis/metabolism
• at 3 months of age, increased FSH levels in the mutant mice were observed when compared with controls
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endocrine/exocrine glands
• the number of sertoli cells per seminiferous tubule was decreased
|
• heterozygous mice show decreased tubule diameter; more severe than heterozygote
|
• apoptotic cells within the seminiferous tubules were observed
• 25-fold increase in apoptotic cell death was observed when compared with the controls
|
• progressive; nodular hyperplasia is seen at 3 months
• by 6 months of age, 75% of the inter-tubular spaces are filled with Leydig cells
• serum testosterone levels are not significantly different
• mean intra-testicular testosterone levels are significantly elevated in the mutant mice when compared to control animals
• no significant changes in inhibin and inhibin B protein levels in the mutant mice when compared with the controls
|
small testis
(
J:91207
)
• size of the homozygous testis is normal at birth but by 12 weeks of age the average size is 30% of controls
• gonadal development at E11 (formation of the indifferent gonad) and E14.5 when testicular cords are first visible, appears normal in the male homozygous mice
• no significant difference in testis size, number of seminiferous tubules or sertoli cell/spermatogonia ratios in the newborn mutant mice
|
cellular
azoospermia
(
J:91207
)
• terminally differentiated spermatozoa are never observed in the mutant testis at 6 weeks of age
|
• haploid spermatids do not develop into mature spermatozoa
|