nervous system
microgliosis
(
J:223197
)
• F4/80-positive microglia are found around individual elements of the calcified aggregates observed in brain
• however, no additional focal increase in microglia is observed
|
• homozygotes display a few calcifications in the basal ganglia
|
• homozygotes display extensive, bilateral abnormal aggregates of calcified spheres in the thalamus
• calcified spheres are ~10 um in diameter while the size of aggregates is ~50-100 um
|
• homozygotes display a few calcifications in the cortex
|
• at 19 weeks of age, both sexes exhibit similar patterns of calcifications in the thalamus, basal ganglia, and brain cortex, unlike wild-type controls
• brain calcifications are found in close proximity to blood vessels, as shown by PAS staining
• however, no calcifications are detected in the cerebellum
|
immune system
microgliosis
(
J:223197
)
• F4/80-positive microglia are found around individual elements of the calcified aggregates observed in brain
• however, no additional focal increase in microglia is observed
|
homeostasis/metabolism
• at 3 weeks of age, the average inorganic phosphate concentration [Pi] in cerebrospinal fluid (CSF) is 2.4-fold higher than that in wild-type controls (2.19 mM versus 0.90 mM, respectively)
• consequently, the average CSF [Pi]/serum [Pi] ratio is 0.57 relative to 0.19 in wild-type controls
|
• at 3 weeks of age, the average serum [Pi] is 0.84-fold lower than that in wild-type controls (4.01 mM versus 4.79 mM, respectively)
|
hematopoietic system
microgliosis
(
J:223197
)
• F4/80-positive microglia are found around individual elements of the calcified aggregates observed in brain
• however, no additional focal increase in microglia is observed
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
basal ganglia calcification | DOID:0060230 |
OMIM:114100 OMIM:213600 OMIM:615007 OMIM:615483 |
J:223197 |