Analysis Tools
mortality/aging
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• 40% died within the first 4 to 6 weeks of life
• some mice survived through 18 months of age, in most cases the long-lived mice were females
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pigmentation
endocrine/exocrine glands
small ovary
(
J:84690
)
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• ovaries were reduced in size, however both folliculogenesis and ovulation occurred normally
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• diameter decreased by 40%
• disorganization of the seminiferous epithelium
• increased number of apoptotic cells in the seminiferous tubules relative to wild-type
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growth/size/body
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• mice were 30% to 40% underweight relative to controls during the first 2 weeks of life
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homeostasis/metabolism
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• absence of plasmalogens
• reduced brain levels of docosahexaenoic acid (DHA)
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limbs/digits/tail
short limbs
(
J:84690
)
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• not as conspicuous as in humans with RCDP
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reproductive system
azoospermia
(
J:84690
)
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• the epididymides were devoid of sperm
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small ovary
(
J:84690
)
|
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• ovaries were reduced in size, however both folliculogenesis and ovulation occurred normally
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• diameter decreased by 40%
• disorganization of the seminiferous epithelium
• increased number of apoptotic cells in the seminiferous tubules relative to wild-type
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• partial arrest occurring between pachytene primary spermatocytes and the stage of round spermatids
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vision/eye
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• dysgenesis of the anterior eye chamber
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lenticonus
(
J:84690
)
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• anterior lenticonus
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• 20% reduction in eye diameter
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nervous system
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• at P20, granule cell precursors (GCP) are present in the external granule layer, which were absent in age-matched controls, indicating a delay in
GCP migration
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• at P10 to P45, the intraculminate, declival and uvular fissures are poorly developed or missing in the mutant cerebellum and lobe IV/V is elongated and folia VI/VII appear to be particularly affected; at P20, reduced depth of the intracrural fissure is also seen
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• reduced size of cerebral hemispheres
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• Purkinje cells of adult mutant mice revealed a hyperspiny phenotype distinguished by additional perisomatic dendrites and multiple perisomatic and proximal dendritic spines not observed in age-matched controls
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• reduced size of cerebellum hemispheres
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• the length of the paranodes was significantly extended in the mutants
• dispersion of the Caspr signal was most pronounced in the optic nerve, but also significant in the corpus callosum and the cerebellum
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• Purkinje cell axons, particularly those having large diameters, to be clearly altered missing the typical transverse bands either along the
entire paranode or at individual loops
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• by P20 myelination in the mutant vermis is considerably delayed especially in folia IV/V and VI, but the hypomyelination became less pronounced with advancing age
• by P45, the reduced myelination mutant mice is predominantly apparent in folium VI
• at P20, the initial non-myelinated portion of the axon was significantly
extended in the optic nerve
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• a 40% decrease in nerve conduction velocity of callosal myelinated fibers is seen, but hippocampal Schaffer collaterals, which in rat and mouse are largely unmyelinated, do not alterations in nerve conduction
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cellular
azoospermia
(
J:84690
)
|
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• the epididymides were devoid of sperm
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• at P20, granule cell precursors (GCP) are present in the external granule layer, which were absent in age-matched controls, indicating a delay in
GCP migration
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| rhizomelic chondrodysplasia punctata type 2 | DOID:0110852 |
OMIM:222765 |
J:84690 | |
