Analysis Tools
mortality/aging
|
• survival beyond 16 months of age reduced to about 40%
|
pigmentation
|
• display a generalized pigmented dilution
|
|
• near total iris albinism
|
|
• immature melanosomes found in follicular melanocytes
• increased numbers of multivesicular forms
• striated forms more frequent as well but are usually misshapen and with irregular pigment
• do not increase in size with maturation
|
respiratory system
|
• at 8 months of age loss of endothelial cells accompanied by the presence of cellular debris in the alveolar spaces is seen
(J:4098)
• by 12 months of age changes in lung morphology become more severe
(J:4098)
• prior to 8 months of age no abnormalities are detected in the lung
(J:4098)
• "honeycomb" effect on lung architecture
(J:53228)
|
|
• at 12 months of age edema is seen in patches of the interstitium
|
|
• at 8 months of age the interstitial matrix appears disorganized due to the presence of cytoplasmic remnants in the alveolar interstitium
• at 12 months of age large lipid droplets and edema are seen in patches of the interstitium
|
|
• cellular debris in the alveolar spaces is seen in mice at 8 months of age
(J:4098)
• at 12 and 24 months of age some lungs show a few patchy areas of air space enlargement accompanied by alveolar septal destruction
(J:4098)
• by 16 months of age, enlarged airspaces and destruction of alveolar tissue
(J:88021)
|
|
• at 8 months of age loss of epithelial cells accompanied by the presence of cellular debris in the alveolar spaces is seen
|
|
• lung elastin levels are significantly reduced compared to controls
|
|
• at 24 months of age lungs that don't display air space enlargement have scattered intraalveolar infiltration of inflammatory cells
|
|
• lung volume is decreased at 8 months of age but increased at 12 and 28 months of age relative to age matched controls
|
|
• lung reactance values decrease with age relative to controls
|
homeostasis/metabolism
|
• platelet ATP levels are about half that of C57BL/6J controls
|
|
• platetelet serotonin levels less than 1% of normal
|
|
• serum elastase inhibitory capacity and alpha1-antitrypsin levels are significantly reduced compared to controls
|
|
• reduced serotonin release after thrombin activation
(J:7327)
• lysosomal enzyme secretion after thrombin activation about half normal
(J:7327)
• platelets show impaired alpha granule content release in response to low-dose thrombin stimulation
(J:221384)
• agonist-dependent lysosome release in platelets is impaired
(J:221384)
• stimulation with a low dose of thrombin elicits a muted release of lysosomal enzymes from platelets
(J:221384)
|
|
• mice exhibit abnormal thrombus formation during laser-induced blood vessel damage, with total platelet accumulation severely attenuated by nearly 80%
|
|
• greater than 15 minutes
|
|
• at 12 months of age edema is seen in patches of the interstitium
|
|
• reduced secretion of lysosomal enzymes into the urine of testosterone treated mice
|
renal/urinary system
|
• reduced secretion of lysosomal enzymes into the urine of testosterone treated mice
|
|
• kidney beta-glucuronidase levels increased 2.5X
• kidney levels of beta-galactosidase and alpha-mannosidase increased
• increased rate of lysosomal enzyme synthesis in kidneys
|
behavior/neurological
|
• sometimes seen to roll over at the end of a swim test
|
|
• erratic swimming pattern in some mice with head tilt
(J:5215)
• 55/99 mice unable to swim - related to absence of normal otoliths
(J:5215)
|
tonic seizures
(
J:5215
)
|
• momentary, in mice displaying head tilt when first placed in water for a swim test
|
hearing/vestibular/ear
|
• variable presence of otoliths - from normal to complete absence
(J:5215)
• otolith development improves by maternal feeding with increased levels of manganese during early gestation
(J:5215)
|
|
• variable defects in latencies, amplitudes and thresholds of VESPs, dependent on amounts of otoconia present
• mice with absent otoconia show absent vestibular compound action potentials
|
hematopoietic system
|
• platelet ATP levels are about half that of C57BL/6J controls
|
|
• platelet ADP levels are a third to a half that of C57BL/6J controls
|
|
• fewer dense granules per platelet
|
|
• platetelet serotonin levels less than 1% of normal
|
|
• lower natural killer cell activity
|
|
• reduced serotonin release after thrombin activation
(J:7327)
• lysosomal enzyme secretion after thrombin activation about half normal
(J:7327)
• platelets show impaired alpha granule content release in response to low-dose thrombin stimulation
(J:221384)
• agonist-dependent lysosome release in platelets is impaired
(J:221384)
• stimulation with a low dose of thrombin elicits a muted release of lysosomal enzymes from platelets
(J:221384)
|
|
• mice exhibit abnormal thrombus formation during laser-induced blood vessel damage, with total platelet accumulation severely attenuated by nearly 80%
|
nervous system
tonic seizures
(
J:5215
)
|
• momentary, in mice displaying head tilt when first placed in water for a swim test
|
cellular
|
• platelet ATP levels are about half that of C57BL/6J controls
|
|
• significant increase in lysosomal enzyme activity of beta-galactosidase and beta-glucuronidase, and to a lesser extent N-acetyl-beta-hexoseaminidase, in kidney extracts
|
immune system
|
• lower natural killer cell activity
|
|
• at 24 months of age lungs that don't display air space enlargement have scattered intraalveolar infiltration of inflammatory cells
|
vision/eye
|
• near total iris albinism
|
growth/size/body
|
• at 12 months of age but not at 8 or 28 months of age
|
integument
| N |
• electron microscopy of the skin shows regular collagen bundles and no excess collagen deposition
|
|
• display a generalized pigmented dilution
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Hermansky-Pudlak syndrome 9 | DOID:0060547 |
OMIM:614171 |
J:221384 | |
| platelet storage pool deficiency | DOID:2223 |
OMIM:185050 |
J:7327 | |
| pulmonary emphysema | DOID:9675 |
OMIM:130700 |
J:4098 | |
