Analysis Tools
immune system
|
• leukocyte infiltration of vitreous humor in eyes with hypermature cataract
• astroglial cell infiltration around fibrotic areas of vitreous humor in eyes with hypermature cataract
• astroglial cell infiltration in retina inner and outer plexiform layer at site of retinal folds and edemas in eyes with hypermature cataract
• eye discharge at age 6 months
|
reproductive system
necrospermia
(
J:296169
)
 |
|
|
|
• 6.5x fewer spermatozoa in cauda epididymis
|
|
|
• immotile and abnormally shaped (non-flagellated, multi-flagellated, round-headed) spermatozoa and non-flagellated cells and cellular debris in cauda epididymis
• increased apoptosis necrosis of spermatozoa in cauda epididymis
|
|
|
• intermediate filaments that form acroplaxome marginal ring absent
|
|
|
• round-headed spermatozoa in cauda epididymis
|
|
|
• no acrosomal vesicle
|
|
|
• not sickle shaped in spermatozoa in cauda epididymis
|
|
|
• frequent occurrence of highly vacuolated giant spermatids and bi-nucleated and multinucleated late spermatids
|
|
|
• of spermatozoa in cauda epididymis from stage 9 to 16
|
small testis
(
J:296169
)
|
|
|
cellular
|
N |
• normal basal plate and manchette formation in spermatids
|
necrospermia
(
J:296169
)
|
|
|
|
|
• 6.5x fewer spermatozoa in cauda epididymis
|
|
|
• immotile and abnormally shaped (non-flagellated, multi-flagellated, round-headed) spermatozoa and non-flagellated cells and cellular debris in cauda epididymis
• increased apoptosis necrosis of spermatozoa in cauda epididymis
|
|
|
• intermediate filaments that form acroplaxome marginal ring absent
|
|
|
• round-headed spermatozoa in cauda epididymis
|
|
|
• no acrosomal vesicle
|
|
|
• not sickle shaped in spermatozoa in cauda epididymis
|
|
|
• frequent occurrence of highly vacuolated giant spermatids and bi-nucleated and multinucleated late spermatids
|
|
|
• randomly located within cytoplasm of stage 2-8 spermatids
|
|
|
• randomly oriented (not aligned with nuclear dense lamina) and in closed instead of open conformation in stage 2-8 spermatids
|
|
|
• filaments mainly organized around plasma membrane instead of acrosome in stage 4-12 spermatids
|
|
|
• of spermatozoa in cauda epididymis from stage 9 to 16
|
|
|
• absence of large vesicles moving from trans-Golgi network to nuclear dense lamina to form acrosome vesicle: only small vesicles scattered around cytoplasm of cap stage spermatids
|
vision/eye
|
• leukocyte infiltration of vitreous humor in eyes with hypermature cataract
• astroglial cell infiltration around fibrotic areas of vitreous humor in eyes with hypermature cataract
• astroglial cell infiltration in retina inner and outer plexiform layer at site of retinal folds and edemas in eyes with hypermature cataract
• eye discharge at age 6 months
|
|
• cataracts at age 1 month (6% of mice unilateral, 2% bilateral), 2 months (21% unilateral, 33% bilateral) and 3 months (15% unilateral, 77% bilateral)
• complete opacity in 37% of cataractous eyes at age 2 months, 87% at age 3 months
• epithelialmesenchymal transition (EMT)-associated fibrosis in localized areas of anterior segment of cataractous lenses
|
|
• cataract formation initiated with appearance of large vacuoles in lens cortical area
|
|
• developing to hypermature with rupture of posterior or anterior lens envelope
|
|
• retinal folds and edemas
|
retina fold
(
J:296007
)
|
• presence of cells in vitreous humor
• fibrosis
|
endocrine/exocrine glands
small testis
(
J:296169
)
|
|
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| cataract | DOID:83 |
OMIM:601371 OMIM:PS116200 |
J:296007 | |
| Cohen syndrome | DOID:0111590 |
OMIM:216550 |
J:296007 | |
