Analysis Tools
mortality/aging
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• mice die before weaning, on average at 8-10 days of age
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growth/size/body
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• most mutants become progressively exhausted and body weights are only 30-50% of controls at the time of death
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homeostasis/metabolism
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• most neonates and embryos (E9.5 and E18.5) do not have any detectable alkaline phosphatase activity in the serum, although about 30% of neonates do have low levels
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adipose tissue
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• animals have almost no body fat
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behavior/neurological
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• poor coordination and mutants appear disoriented
• 9-10 day old mutants fall off a small box much quicker than controls and when placed on inclined planes, they do not distinguish if they are placed facing upwards or downwards on the slope like wild-type which always move up the slope
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• about 50% of mutants exhibit severe epileptic seizures 1-2 days before their death
• seizures appear as constant running in the cage, high-pitched vocalizations, biting of the tongue, and loss of consciousness in a supine position associated with apnea for periods of 30 sec or more
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digestive/alimentary system
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• large amounts of gas in small intestines
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• small intestine contains large amount of gas, suggesting impaired intestinal movement
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hematopoietic system
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• thinner thymus cortex
• the cortex of the thymus contains many basophilic necrotic apoptotic cells
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• WBC count is reduced to 58.3% of wild-type
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• spleen exhibits a reduction in cell mass in the outer layer and an altered ratio of red to white pulp
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small spleen
(
J:39015
)
pale spleen
(
J:39015
)
immune system
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• thinner thymus cortex
• the cortex of the thymus contains many basophilic necrotic apoptotic cells
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• WBC count is reduced to 58.3% of wild-type
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• spleen exhibits a reduction in cell mass in the outer layer and an altered ratio of red to white pulp
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small spleen
(
J:39015
)
pale spleen
(
J:39015
)
muscle
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• reduction in muscle structure
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respiratory system
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• bleeding in lung tissue is observed in some mutants that have a severe seizure attack and die
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nervous system
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• about 50% of mutants exhibit severe epileptic seizures 1-2 days before their death
• seizures appear as constant running in the cage, high-pitched vocalizations, biting of the tongue, and loss of consciousness in a supine position associated with apnea for periods of 30 sec or more
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• bleeding in the cranial ventricle is observed in some mutants that have a severe seizure attack and die
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• nerve roots emerging from the spinal cord and descending within the dura are thinner than in controls
• reduction in nerve root mass; not due to increased cell death
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cardiovascular system
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• 50% of mutants that died after severe seizure attacks showed bleeding in the thoracic cavity
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• bleeding in lung tissue is observed in some mutants that have a severe seizure attack and die
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• bleeding in the cranial ventricle is observed in some mutants that have a severe seizure attack and die
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craniofacial
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• thin parietal bones
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skeleton
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• thin parietal bones
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• shorter growth plates in the metaphysis of P11 mutants
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• metaphysis contains excessive number of erythroctyes
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• up to 50% of mature osteoblasts in the parietal bones contain abnormal vacuoles
• osteoblasts with abnormal morphology are seen on the surfaces of trabeculae and in the periosteal region of the diaphysis
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• poor mineralization in the parietal bones, scapulae, vertebral bones, and ribs at P8
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• observe evidence of spontaneous fractures in the fibulae
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endocrine/exocrine glands
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• thinner thymus cortex
• the cortex of the thymus contains many basophilic necrotic apoptotic cells
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| infantile hypophosphatasia | DOID:0110914 |
OMIM:241500 |
J:39015 | |
