mortality/aging
• only about 2/3 of expected homozygotes present at weaning
• a significant reduction of homozygotes by around E11.5-E13.5
|
growth/size/body
N |
• pups appear normal at birth
• body weight at birth is normal
|
cellular
N |
• no gross abnormalities associated with cell cilia or cilia function
• centriolar satellite formation normal in cultured MEFs
• centrosome and centriole numbers normal
• chromosome stability appears normal
|
• drastically reduced sperm density in testes (less than 2% of wild type)
|
• manchette of sperm kinked and often mis-positioned
|
• sperm flagella are shorter and morphologically abnormal
• drastically reduced sperm flagella in seminiferous tubules
|
• head-tail coupling apparatus often misaligned
|
• sperm heads show an abnormal club-shaped nuclear morphology
|
• spermatids start entering into apoptosis in step 9
|
reproductive system
• spermatids start entering into apoptosis in step 9
|
• significant reductions in tubule lumen diameter
|
• drastically reduced sperm density in testes (less than 2% of wild type)
|
• manchette of sperm kinked and often mis-positioned
|
• sperm flagella are shorter and morphologically abnormal
• drastically reduced sperm flagella in seminiferous tubules
|
• head-tail coupling apparatus often misaligned
|
• sperm heads show an abnormal club-shaped nuclear morphology
|
• normal up to steps 7-8
• step 9 spermatid morphology is highly abnormal, with elongating spermatids mis-localized and mis-oriented within the tubules
• spermatids start entering into apoptosis in step 9
|
• Cauda or caput epididymides contain only debris and degenerating sperm
|
• males are completely infertile whereas female fertility is normal
|
respiratory system
N |
• cilia of airway epithelia are normal
|
vision/eye
N |
• no sign of retinal degeneration in aged mice
|
renal/urinary system
N |
• no kidney cysts
|
endocrine/exocrine glands
• significant reductions in tubule lumen diameter
|