Analysis Tools
mortality/aging
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• mice die between 4 and 5 weeks of age
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• most obvious signs of premature aging are thickening of the epidermal layer by hyperkeratosis, thinning of the underlying dermis, atrophy of the accompanying muscle, and absence of the subcutaneous fat layer
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behavior/neurological
abnormal gait
(
J:83382
)
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• slight waddling gait
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cardiovascular system
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• mild to moderate degeneration mixed with hypoplasia and/or atrophy
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• subtle anomalies consistent with pulmonary hypertension
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• a decrease in the number of myocytes with a compensatory increase in the fibrocyte numbers such that the total number of cells in the heart is the same as in wild-type
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small heart
(
J:83382
)
craniofacial
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• about half of mutants have a gap between the lower two incisors, which are yellowed
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micrognathia
(
J:83382
)
endocrine/exocrine glands
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• reduction in numbers of sebaceous glands
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• reduction in the numbers of eccrine glands
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growth/size/body
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• about half of mutants have a gap between the lower two incisors, which are yellowed
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• within 4-6 days after birth, mice develop severe growth retardation
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hearing/vestibular/ear
limbs/digits/tail
| N |
• no osteolysis of terminal digits
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• reduction in the numbers of eccrine glands
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muscle
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• a decrease in the number of myocytes with a compensatory increase in the fibrocyte numbers such that the total number of cells in the heart is the same as in wild-type
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• mild to moderate degeneration mixed with hypoplasia and/or atrophy
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• hypoplasia and/or atrophy of esophageal muscles suggesting either incomplete development or loss of muscle mass
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• mild to moderate degeneration of skeletal muscles, including pharyngeal, paravertebral, shoulder, hip, tibia, radius, femur, humerus, and tongue
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• occurs by 4 weeks of age, indicating premature aging in mutants
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reproductive system
small gonad
(
J:83382
)
skeleton
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• about half of mutants have a gap between the lower two incisors, which are yellowed
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micrognathia
(
J:83382
)
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• in 50% of mutants, at least one scapula is smaller, thinner, and misshapen compared with controls
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• decrease in total bone mineral density of 25-30% compared to controls
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• 4 week old mutants show a decrease in number and size of trabeculae
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osteoporosis
(
J:83382
)
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• 4 week old mutants exhibit a decrease in the cortex width of vertebrae and femur, indicating osteoporosis
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adipose tissue
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• at 4 weeks of age, an indictor of premature aging
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digestive/alimentary system
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• hypoplasia and/or atrophy of esophageal muscles suggesting either incomplete development or loss of muscle mass
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cellular
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• nuclear morphology is disrupted in mouse embryo fibroblasts; 58% of mutant cells have discontinuities of the nuclear envelope compared to 20% of heterozygotes and 5.6% of wild-type cells
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integument
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• at 4 weeks of age, an indictor of premature aging
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• reduction in numbers of sebaceous glands
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• reduction in the numbers of eccrine glands
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• decrease in follicle density
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• increase in collagen deposition in the skin
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• thinning of the dermal layer is seen at 4 weeks of age
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• seen at 4 weeks of age, indicating premature aging
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| progeria | DOID:3911 |
OMIM:176670 |
J:83382 | |
