homeostasis/metabolism
N |
• female mice exhibit normal serum protein (total protein, albumin, and total iron binding capacity) levels
|
• at 14 months of age
|
• slight with increased transferrin saturation
• however, iron levels are normal in the brain and erythropoiesis organ
|
• at 14 months of age
|
• at 14 months of age
|
• mild delay in glucose clearance in female, but not male mice
|
• at 14 months of age
|
nervous system
• impaired in the cerebellar cortex
|
astrocytosis
(
J:307284
)
• in the medulla oblongata
|
• reduced dopamine positive neuroaxonal fibres in the substantia nigra
|
• progressive with eosinophil spheroids and swollen structures in the basal ganglia, thalamus, cerebral cortex, medulla oblongata, spinal cord, and deep cerebellar nuclei
|
vision/eye
• in female, but not male, mice
|
• in some mice
|
behavior/neurological
• increased falls on a balance beam and longer time to traverse a beam ladder with increased hindpaw slips
• however, forepaw slips rate is normal
|
• increased distance traveled
|
growth/size/body
hearing/vestibular/ear
• progressive starting at 17 months in a click-box test
|
hematopoietic system
• female mice exhibit normal leukocyte and erythrocyte counts along with normal hemoglobin levels and hematocrit levels
|
anisocytosis
(
J:307284
)
• MP:0002642
|
pigmentation
• in the retina
• however, no lipofuscin accumulation in the brain
|
cellular
• reduced complex I activity when normalized to citrate synthase activity in the brain
• however, mice exhibit normal citrate synthase activity and normalized respiratory chain complex activity in the heart
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
neurodegeneration with brain iron accumulation 5 | DOID:0110739 |
OMIM:300894 |
J:307284 |