Analysis Tools
mortality/aging
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• Background Sensitivity: animals surviving to birth die between 1-3 weeks of age
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• incomplete penetrance with only 7% homozygous offspring from heterozygote x heterozygote breeders
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growth/size/body
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• smaller than littermates
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vision/eye
| N |
• normal cell number and apoptotic kinetics within the retinal ganglion cell layer and normal width of the nerve fiber and plexiform layers
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• protrusions of the neuroepithelium in the retina, causing compression on the lens
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• delayed regression of vitreal vasculature
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• optic stalk contains fewer pyknotic cells and is much larger than in wild-type
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• eyes are 85% to 90% smaller than those of heterozygotes or wild-type
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• retinal dysplasia near the optic nerve ranging from absence of retinal pigment epithelium to whorled and folded neuroretina
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• absence of the retinal pigment epithelium in a region encircling the optic nerve
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• delayed apoptotic kinetics result in thickened inner nuclear layer at 5 days of age which resolves after 13 days of age
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retina fold
(
J:88367
)
|
• in severe cases, the posterior retina is folded and elevated at the optic nerve head
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nervous system
| N |
• normal cell number and apoptotic kinetics within the retinal ganglion cell layer and normal width of the nerve fiber and plexiform layers
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• multiple indentations and ectopic cell masses in the cerebrum mantel
• protrusion of brain tissue from the skull at the frontal bone area
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• the germinal layer is thick and mitotically active at P16, at a time when it is normally absent, and spindle-shaped granule cells traverse the molecular layer
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• the germinal layer is thick and mitotically active at P16, at a time when it is normally absent
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hydrocephaly
(
J:36821
)
|
• diencephalic lumen is frequently obstructed at E17
|
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• increase in cell number and density of the brainstem at E12
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• ectopic cell masses are found between the cerebral cortex, the hippocampus and the striatum
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• thicker diencephalic wall with supernumerary cell masses is seen at E12
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• thickness of the internal granular layer is increased
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• numerous spindle-shaped granule cells are seen traversing the molecular layer
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skeleton
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• open sagittal suture of anterior frontal bone at 7 weeks of age
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cranioschisis
(
J:94703
)
|
• either completely open sagittal suture or incomplete closure at 7 weeks of age
|
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• osteoclast activity is reduced, most likely due to dysfunctional preosteoblastic cells
|
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• skeleton is smaller than normal at 1 week of age
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• reduced trabecular thickness
• reduced bone volume to tissue volume ratio
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• evident at E14.5 in skull, metacarpi, phalanges, and sternum and at E17.5 in interparietal bones and metatarsi
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craniofacial
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• open sagittal suture of anterior frontal bone at 7 weeks of age
|
cranioschisis
(
J:94703
)
|
• either completely open sagittal suture or incomplete closure at 7 weeks of age
|
cardiovascular system
|
• delayed regression of vitreal vasculature, however the heart is histologically normal
|
pigmentation
|
• absence of the retinal pigment epithelium in a region encircling the optic nerve
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cellular
| N |
• normal phosphatidyl serine flip-flop in thymocytes treated with dexamethasone
(J:59875)
• E12.5 primary telencephalic cultures undergo normal cell death in response to AraC treatment
(J:66953)
|
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• pyknotic clusters at sites of major morphogenetic change during brain development are not observed, indicating a decrease in apoptosis in the brain
• however, thymocytes show normal susceptibility to apoptosis
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hematopoietic system
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• fewer total thymocytes at 2 weeks of age, however the spleen is histologically normal
|
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• osteoclast activity is reduced, most likely due to dysfunctional preosteoblastic cells
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immune system
| N |
• normal thymocyte expression patterns of CD4, CD8, CD25, CD69, and heat stable antigen
|
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• fewer total thymocytes at 2 weeks of age, however the spleen is histologically normal
|
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• osteoclast activity is reduced, most likely due to dysfunctional preosteoblastic cells
|
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• increased replicative senescence in bone marrow stromal stem cells from attenuated cell cycle
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renal/urinary system
| N |
• kidney is histologically normal
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respiratory system
| N |
• lung is histologically normal
|
reproductive system
| N |
• testis is histologically normal
|
endocrine/exocrine glands
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• fewer total thymocytes at 2 weeks of age, however the spleen is histologically normal
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