Analysis Tools
limbs/digits/tail
skeleton
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• osteoclasts apperar smaller than controls, but comparable numbers of multinucleated TRAP+ osteoclasts per unit trabecular area are seen in femurs of 6-week-old mutant and control mice
• however, in vitro studies show that the induction of multinucleated, TRAP+ osteoclasts was significantly hampered compared to controls
• in vitro, mutant osteoclasts were devoid of an actin ring, which is characteristic of mature and functional osteoclasts and is necessary for tight adhesion of osteoclasts to bone matrix
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• in vitro, mutant osteoclasts had a significantly reduced ability to form resorptive pits on the dentin surface, while control osteoclasts made many pits
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• slight increase is seen at 12 weeks of age, most notably in the tail bones and the metaphyseal regions of the femurs
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• micro-CT scans show an increase in trabecular bone mass in the tibia at 40 weeks of age
• at 6 weeks of age, a significant increase in trabecular bone mass is seen compared to controls, but this difference is not seen at 3 weeks of age
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osteopetrosis
(
J:81823
)
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• the increase in trabecular bone amount is progressive with age
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nervous system
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• ectopic immature oligodendrocytes are found in the fimbria and internal capsule, adjacent to the thalamus at 1.5 and 3 months of age
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• in the medial thalamus of 6 month old mice, degenerated synapses and accumulated synaptic vesicles are seen
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• the cross-sectional shapes of unmyelinated axons are slightly distorted compared with those of myelinated axons
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• reduced expression of myelin basic protein in the thalamus at 1.5 and 3 months of age; this reduction is more severe in the frontal thalamus than in the posterior region
• in 6 month old mice, the number of myelinated axons in the medial thalamus is reduced, and many axons are unmyelinated
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• mice exhibit an impairment in the developmental changes of the decay time constant in GABAergic mIPSCs
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• significantly reduced prepulse inhibition is seen in homozygous mice
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behavior/neurological
| N |
• at 3.5 months of age, analysis of motor function, nociceptive responses, and learning, including an electric shock test, a hot plate test, and a Morris water maze task indicated no differences compared to controls
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• mice show reduced response to acoustic stimuli
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hematopoietic system
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• osteoclasts apperar smaller than controls, but comparable numbers of multinucleated TRAP+ osteoclasts per unit trabecular area are seen in femurs of 6-week-old mutant and control mice
• however, in vitro studies show that the induction of multinucleated, TRAP+ osteoclasts was significantly hampered compared to controls
• in vitro, mutant osteoclasts were devoid of an actin ring, which is characteristic of mature and functional osteoclasts and is necessary for tight adhesion of osteoclasts to bone matrix
|
|
• in vitro, mutant osteoclasts had a significantly reduced ability to form resorptive pits on the dentin surface, while control osteoclasts made many pits
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immune system
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• osteoclasts apperar smaller than controls, but comparable numbers of multinucleated TRAP+ osteoclasts per unit trabecular area are seen in femurs of 6-week-old mutant and control mice
• however, in vitro studies show that the induction of multinucleated, TRAP+ osteoclasts was significantly hampered compared to controls
• in vitro, mutant osteoclasts were devoid of an actin ring, which is characteristic of mature and functional osteoclasts and is necessary for tight adhesion of osteoclasts to bone matrix
|
|
• in vitro, mutant osteoclasts had a significantly reduced ability to form resorptive pits on the dentin surface, while control osteoclasts made many pits
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• cultured dendritic cells show reduced responses to Sema6D stimulation
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Nasu-Hakola disease | DOID:0090112 |
OMIM:221770 |
J:81823 | |
